SAMPLE LAB REPORTS
FOR PRENATAL LABORATORY-DEVELOPED TESTING SERVICES
y
x
1
2
17
18
3
19
20
22
21
15
16
4
4
2
6
13
14
5
5
1
7
11
10
9
y
1
2
17
18
3
19
20
22
21
8
x
15
16
4
4
14
5
QUALITY OF SCIENCE™
6
13
5
Noninvasive prenatal test for genome-wide
fetal chromosomal abnormalities
GENOME
Lab Reports
TABLE OF CONTENTS
PAGE
1. NEGATIVE REPORT: NORMAL FEMALE
2
2. POSITIVE REPORT: T21 SINGLE FINDING 5
3. POSITIVE REPORT: LOSS OF 22Q 9
4. NEGATIVE REPORT: UNINFORMATIVE FOR 22Q
13
5. POSITIVE REPORT: GAIN / DUPLICATION
16
6. POSITIVE REPORT: T7 SINGLE FINDING
20
File name: 34-40500R1.0-MaterniT-GENOME-Lab-Reports-082715
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Negative
Test Result
Fetal sex consistent with female
Laboratory Director’s Comments
Genome-wide analysis of this specimen did not detect gains or losses of chromosomal material suggestive of whole
chromosome aneuploidies, subchromosomal duplications or deletions ≥7 Mb, or select microdeletions ranging in
size below 7Mb. A negative result does not ensure an unaffected pregnancy. Please refer to the “Performance” and
“Limitations of the Test” sections of this laboratory report for additional information.
Result Table
Content
AUTOSOMAL ANEUPLOIDIES
Result
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
Other autosomal aneuploidies
Negative
SEX CHROMOSOME ANEUPLOIDIES
Fetal sex
Consistent with female
Monosomy X (Turner syndrome)
Negative
XYY (Jacobs syndrome)
Negative
XXY (Klinefelter syndrome)
Negative
XXX (Triple X syndrome)
Negative
GENOME-WIDE COPY NUMBER VARIANTS ≥7 Mb
Gains/Losses ≥7 Mb
Negative
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Negative
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Negative
11q23 deletion (associated with Jacobsen syndrome)
Negative
8q24 deletion (associated with Langer-Giedion syndrome)
Negative
5p15 deletion (associated with Cri-du-chat syndrome)
Negative
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Negative
1p36 deletion syndrome
Negative
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 1 of 3
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
About the Test
The MaterniT GENOME laboratory-developed test analyzes the relative amount of chromosomal material across the
genome in circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with
singleton pregnancies at risk of fetal chromosomal and/or subchromosomal abnormalities.
Test Method
Circulating cell-free DNA was purified from the plasma component of anti-coagulated maternal whole blood. A genomic
DNA library was prepared to determine chromosomal representation by massively parallel sequencing.1 Gain or loss of
chromosomal material ≥7 Mb was evaluated across the entire genome. Select chromosomal regions (1p, 4p, 5p, 8q,
11q, 15q, and 22q) associated with known syndromes were also evaluated. Fetal sex was assessed by Y chromosome
representation.
Performance
The MaterniT™ GENOME test utilizes the same proprietary technology as the MaterniT21® PLUS test, with deeper
sequencing. In a clinical study using 448 patient samples to evaluate concordance, the MaterniT GENOME test was
equivalent in performance, for the analysis of trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies and fetal
sex classification, to the MaterniT21 PLUS test.2 The MaterniT21 PLUS test performance has previously been validated
and published extensively.1, 3-6
The MaterniT GENOME test performance characteristics for the detection of genome-wide gain or loss events ≥7 Mb,
and select microdeletions below 7 Mb, were established using in silico analytic methods, and validated using test samples
comprised of genomic DNA mixed with plasma from non-pregnant females.2 Sensitivity for genome-wide events ≥7
Mb was determined to be 95.9%. Sensitivities for select microdeletions varied by size of the event and fetal fraction.
Specificity for genome-wide events and select microdeletions was established using 1060 maternal plasma DNA samples
and was determined to be >99.9%.
Additional details can be found in the table below, and at sequenom.com/genome/performance.
Performance Characteristics
Size Range*
(Mb)
Median Size*
(Mb)
Reportable Fetal
Fraction Threshold
Sensitivity**
Specificity
NA
NA
≥4%
95.9% (61->99%)
>99.9%
22q11.2 (DiGeorge)
0.8-3.6
2.6
≥8%
53.9% (28-91%)
>99.9%
15q11.2 (Prader-Willi & Angelman)
1.2-15.8
5.1
≥4%
59.2% (16-74%)
>99.9%
11q23 (Jacobsen)
1.3-15.7
9.0
≥4%
86.7% (57->99%)
>99.9%
8q24.11-q24.13 (Langer-Giedion)
7.6-8.8
7.9
≥4%
97.2% (80->99%)
>99.9%
5p15.3 (Cri du chat)
1.5-17.8
6.0
≥4%
83.1% (48-96%)
>99.9%
4p16.3 (Wolf-Hirschhorn)
1.1-17.3
4.2
≥4%
72.9% (37-91%)
>99.9%
1p36 (1p36 deletion syndrome)
1.6-13.3
3.8
≥4%
50.7% (13-81%)
>99.9%
Region (Associated Syndrome)
Genome-wide events ≥7 Mb
* As reported in ISCA database nstd37 [http://dbsearch.clinicalgenome.org/search/]
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range
of fetal fractions observed in routine clinical NIPT. Figures in parentheses indicate upper and lower estimates for sensitivity at the
reportable fetal fraction threshold and at fetal fraction >20%, respectively. Actual sensitivity can also be influenced by other factors
such as the size of the event, total sequence counts, amplification bias, or sequence bias.
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 2 of 3
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Limitations of the Test
While the results of the MaterniT GENOME test are highly accurate, discordant results, including inaccurate fetal sex
prediction, may occur due to placental, maternal, or fetal mosaicism, or other causes. Cell-free DNA (cfDNA) testing does
not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive MaterniT
GENOME test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of
test results. A negative MaterniT GENOME result does not ensure an unaffected pregnancy. An uninformative result may
be reported, the causes of which may include, but are not limited to, insufficient sequencing coverage, sequencing noise or
artifacts, amplification bias, or insufficient fetal fraction. The MaterniT GENOME test is not intended to identify pregnancies
at risk for neural tube defects or ventral wall defects. cfDNA testing for whole chromosome abnormalities (including sex
chromosomes) and for subchromosomal abnormalities could lead to the potential discovery of both fetal and maternal
genomic abnormalities that could have minor, or no, clinical significance. Evaluating the significance of a positive or a
non-reportable test result may involve both invasive testing and additional studies on the pregnant woman. Such studies
may lead to a diagnosis of whole or partial chromosomal abnormalities in the pregnant woman, which on occasion could
be associated with benign or malignant neoplasms. cfDNA testing may not accurately identify fetal triploidy, balanced
rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal
diagnosis with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, and/
or maternal systemic lupus erythematosus (SLE). The results of this testing, including the benefits and limitations, should
be discussed with a qualified health care provider. Management decisions, including termination of the pregnancy, should
not be based on the results of this test alone.
Note
This laboratory-developed test was developed and its performance characteristics determined by Sequenom Laboratories.
It has not been cleared or approved by the U.S. FDA. This test is used for clinical purposes. It should not be regarded as
investigational or for research. Although laboratory-developed tests to date have not been subject to U.S. FDA regulation,
certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the
quality and validity of the tests. This laboratory is certified under CLIA to perform high complexity clinical laboratory testing
and accredited by the College of American Pathologists (CAP).
References
1.Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
2.Tynan J, et al. Karyotype-level noninvasive prenatal testing by sequencing of circulating cell-free DNA from maternal plasma. Poster presented at the
International Society of Prenatal Diagnosis Annual Meeting. July 2015.
3.Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
4.Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
5.Mazloom AR, et al. American Society of Human Genetics. November 2012.
6.Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
Nilesh Dharajiya, MD
Laboratory Director, Sequenom Laboratories
xx/xx/2015
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 3 of 3
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Positive
Test Result
Trisomy 21
Laboratory Director’s Comments
This specimen showed an increased representation of chromosome 21 (trisomy 21), suggestive of Down syndrome.
Genetic counseling and clinical correlation are recommended. Confirmatory testing is required if fetal confirmation
and clinical interpretation of the suspected event are desired. Please refer to the “Performance” and “Limitations of
the Test” sections of this laboratory report for additional information.
q22.3
q22.2
q22.1
q21.1
q11.2
p11.1
p12
p13
q11.1
Duplication
p11.2
Chr21
Description: An approximate 35 Mb gain of chromosome 21 material was observed, suggestive of trisomy 21.
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 1 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Result Table
Content
AUTOSOMAL ANEUPLOIDIES
Result
Trisomy 21 (Down syndrome)
Positive
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
Other autosomal aneuploidies
Negative
SEX CHROMOSOME ANEUPLOIDIES
Fetal sex
Consistent with female
Monosomy X (Turner syndrome)
Negative
XYY (Jacobs syndrome)
Negative
XXY (Klinefelter syndrome)
Negative
XXX (Triple X syndrome)
Negative
GENOME-WIDE COPY NUMBER VARIANTS ≥7 Mb
Gains/Losses ≥7 Mb
Negative
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Negative
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Negative
11q23 deletion (associated with Jacobsen syndrome)
Negative
8q24 deletion (associated with Langer-Giedion syndrome)
Negative
5p15 deletion (associated with Cri-du-chat syndrome)
Negative
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Negative
1p36 deletion syndrome
Negative
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 2 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
About the Test
The MaterniT GENOME laboratory-developed test analyzes the relative amount of chromosomal material across the
genome in circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with
singleton pregnancies at risk of fetal chromosomal and/or subchromosomal abnormalities.
Test Method
Circulating cell-free DNA was purified from the plasma component of anti-coagulated maternal whole blood. A genomic
DNA library was prepared to determine chromosomal representation by massively parallel sequencing.1 Gain or loss of
chromosomal material ≥7 Mb was evaluated across the entire genome. Select chromosomal regions (1p, 4p, 5p, 8q,
11q, 15q, and 22q) associated with known syndromes were also evaluated. Fetal sex was assessed by Y chromosome
representation.
Performance
The MaterniT™ GENOME test utilizes the same proprietary technology as the MaterniT21® PLUS test, with deeper
sequencing. In a clinical study using 448 patient samples to evaluate concordance, the MaterniT GENOME test was
equivalent in performance, for the analysis of trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies and fetal
sex classification, to the MaterniT21 PLUS test.2 The MaterniT21 PLUS test performance has previously been validated
and published extensively.1, 3-6
The MaterniT GENOME test performance characteristics for the detection of genome-wide gain or loss events ≥7 Mb,
and select microdeletions below 7 Mb, were established using in silico analytic methods, and validated using test samples
comprised of genomic DNA mixed with plasma from non-pregnant females.2 Sensitivity for genome-wide events ≥7
Mb was determined to be 95.9%. Sensitivities for select microdeletions varied by size of the event and fetal fraction.
Specificity for genome-wide events and select microdeletions was established using 1060 maternal plasma DNA samples
and was determined to be >99.9%.
Additional details can be found in the table below, and at sequenom.com/genome/performance.
Performance Characteristics
Size Range*
(Mb)
Median Size*
(Mb)
Reportable Fetal
Fraction Threshold
Sensitivity**
Specificity
NA
NA
≥4%
95.9% (61->99%)
>99.9%
22q11.2 (DiGeorge)
0.8-3.6
2.6
≥8%
53.9% (28-91%)
>99.9%
15q11.2 (Prader-Willi & Angelman)
1.2-15.8
5.1
≥4%
59.2% (16-74%)
>99.9%
11q23 (Jacobsen)
1.3-15.7
9.0
≥4%
86.7% (57->99%)
>99.9%
8q24.11-q24.13 (Langer-Giedion)
7.6-8.8
7.9
≥4%
97.2% (80->99%)
>99.9%
5p15.3 (Cri du chat)
1.5-17.8
6.0
≥4%
83.1% (48-96%)
>99.9%
4p16.3 (Wolf-Hirschhorn)
1.1-17.3
4.2
≥4%
72.9% (37-91%)
>99.9%
1p36 (1p36 deletion syndrome)
1.6-13.3
3.8
≥4%
50.7% (13-81%)
>99.9%
Region (Associated Syndrome)
Genome-wide events ≥7 Mb
* As reported in ISCA database nstd37 [http://dbsearch.clinicalgenome.org/search/]
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range
of fetal fractions observed in routine clinical NIPT. Figures in parentheses indicate upper and lower estimates for sensitivity at the
reportable fetal fraction threshold and at fetal fraction >20%, respectively. Actual sensitivity can also be influenced by other factors
such as the size of the event, total sequence counts, amplification bias, or sequence bias.
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 3 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Limitations of the Test
While the results of the MaterniT GENOME test are highly accurate, discordant results, including inaccurate fetal sex
prediction, may occur due to placental, maternal, or fetal mosaicism, or other causes. Cell-free DNA (cfDNA) testing does
not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive MaterniT
GENOME test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of
test results. A negative MaterniT GENOME result does not ensure an unaffected pregnancy. An uninformative result may
be reported, the causes of which may include, but are not limited to, insufficient sequencing coverage, sequencing noise or
artifacts, amplification bias, or insufficient fetal fraction. The MaterniT GENOME test is not intended to identify pregnancies
at risk for neural tube defects or ventral wall defects. cfDNA testing for whole chromosome abnormalities (including sex
chromosomes) and for subchromosomal abnormalities could lead to the potential discovery of both fetal and maternal
genomic abnormalities that could have minor, or no, clinical significance. Evaluating the significance of a positive or a
non-reportable test result may involve both invasive testing and additional studies on the pregnant woman. Such studies
may lead to a diagnosis of whole or partial chromosomal abnormalities in the pregnant woman, which on occasion could
be associated with benign or malignant neoplasms. cfDNA testing may not accurately identify fetal triploidy, balanced
rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal
diagnosis with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, and/
or maternal systemic lupus erythematosus (SLE). The results of this testing, including the benefits and limitations, should
be discussed with a qualified health care provider. Management decisions, including termination of the pregnancy, should
not be based on the results of this test alone.
Note
This laboratory-developed test was developed and its performance characteristics determined by Sequenom Laboratories.
It has not been cleared or approved by the U.S. FDA. This test is used for clinical purposes. It should not be regarded as
investigational or for research. Although laboratory-developed tests to date have not been subject to U.S. FDA regulation,
certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the
quality and validity of the tests. This laboratory is certified under CLIA to perform high complexity clinical laboratory testing
and accredited by the College of American Pathologists (CAP).
References
1.Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
2.Tynan J, et al. Karyotype-level noninvasive prenatal testing by sequencing of circulating cell-free DNA from maternal plasma. Poster presented at the
International Society of Prenatal Diagnosis Annual Meeting. July 2015.
3.Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
4.Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
5.Mazloom AR, et al. American Society of Human Genetics. November 2012.
6.Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
Nilesh Dharajiya, MD
Laboratory Director, Sequenom Laboratories
xx/xx/2015
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 4 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Positive
Test Result
Loss of chromosome 22(q11.2) material
Laboratory Director’s Comments
A loss of chromosome 22 material was observed. It is estimated to be 2.6 Mb in size and is suggestive of a deletion
in the region 22q11.2, which is associated with DiGeorge syndrome. Genetic counseling and clinical correlation are
recommended. Confirmatory testing is required if fetal confirmation and clinical interpretation of the suspected event
are desired. Please refer to the “Performance” and “Limitations of the Test” sections of this laboratory report for
additional information.
q13.3
q13.2
q13.1
q12.3
q12.2
q12.1
q11.2
p11.1
p12
p13
q11.1
Deletion
p11.2
Chr22
Description: An approximate 2.6 Mb loss of chromosome 22 material was observed, suggestive of a deletion in the
region q11.2, associated with DiGeorge syndrome.
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 1 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Result Table
Content
AUTOSOMAL ANEUPLOIDIES
Result
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
Other autosomal aneuploidies
Negative
SEX CHROMOSOME ANEUPLOIDIES
Fetal sex
Negative
Monosomy X (Turner syndrome)
XYY (Jacobs syndrome)
Consistent with female
XXY (Klinefelter syndrome)
Negative
XXX (Triple X syndrome)
Negative
XXY (Klinefelter syndrome)
Negative
XXX (Triple X syndrome)
Negative
SELECT MICRODELETION REGIONS
22q11 deletion (associated with DiGeorge syndrome)
Positive
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Negative
11q23 deletion (associated with Jacobsen syndrome)
Negative
8q24 deletion (associated with Langer-Giedion syndrome)
Negative
5p15 deletion (associated with Cri-du-chat syndrome)
Negative
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Negative
1p36 deletion syndrome
Negative
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 2 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
About the Test
The MaterniT GENOME laboratory-developed test analyzes the relative amount of chromosomal material across the
genome in circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with
singleton pregnancies at risk of fetal chromosomal and/or subchromosomal abnormalities.
Test Method
Circulating cell-free DNA was purified from the plasma component of anti-coagulated maternal whole blood. A genomic
DNA library was prepared to determine chromosomal representation by massively parallel sequencing.1 Gain or loss of
chromosomal material ≥7 Mb was evaluated across the entire genome. Select chromosomal regions (1p, 4p, 5p, 8q,
11q, 15q, and 22q) associated with known syndromes were also evaluated. Fetal sex was assessed by Y chromosome
representation.
Performance
The MaterniT™ GENOME test utilizes the same proprietary technology as the MaterniT21® PLUS test, with deeper
sequencing. In a clinical study using 448 patient samples to evaluate concordance, the MaterniT GENOME test was
equivalent in performance, for the analysis of trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies and fetal
sex classification, to the MaterniT21 PLUS test.2 The MaterniT21 PLUS test performance has previously been validated
and published extensively.1, 3-6
The MaterniT GENOME test performance characteristics for the detection of genome-wide gain or loss events ≥7 Mb,
and select microdeletions below 7 Mb, were established using in silico analytic methods, and validated using test samples
comprised of genomic DNA mixed with plasma from non-pregnant females.2 Sensitivity for genome-wide events ≥7
Mb was determined to be 95.9%. Sensitivities for select microdeletions varied by size of the event and fetal fraction.
Specificity for genome-wide events and select microdeletions was established using 1060 maternal plasma DNA samples
and was determined to be >99.9%.
Additional details can be found in the table below, and at sequenom.com/genome/performance.
Performance Characteristics
Size Range*
(Mb)
Median Size*
(Mb)
Reportable Fetal
Fraction Threshold
Sensitivity**
Specificity
NA
NA
≥4%
95.9% (61->99%)
>99.9%
22q11.2 (DiGeorge)
0.8-3.6
2.6
≥8%
53.9% (28-91%)
>99.9%
15q11.2 (Prader-Willi & Angelman)
1.2-15.8
5.1
≥4%
59.2% (16-74%)
>99.9%
11q23 (Jacobsen)
1.3-15.7
9.0
≥4%
86.7% (57->99%)
>99.9%
8q24.11-q24.13 (Langer-Giedion)
7.6-8.8
7.9
≥4%
97.2% (80->99%)
>99.9%
5p15.3 (Cri du chat)
1.5-17.8
6.0
≥4%
83.1% (48-96%)
>99.9%
4p16.3 (Wolf-Hirschhorn)
1.1-17.3
4.2
≥4%
72.9% (37-91%)
>99.9%
1p36 (1p36 deletion syndrome)
1.6-13.3
3.8
≥4%
50.7% (13-81%)
>99.9%
Region (Associated Syndrome)
Genome-wide events ≥7 Mb
* As reported in ISCA database nstd37 [http://dbsearch.clinicalgenome.org/search/]
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range
of fetal fractions observed in routine clinical NIPT. Figures in parentheses indicate upper and lower estimates for sensitivity at the
reportable fetal fraction threshold and at fetal fraction >20%, respectively. Actual sensitivity can also be influenced by other factors
such as the size of the event, total sequence counts, amplification bias, or sequence bias.
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 3 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Limitations of the Test
While the results of the MaterniT GENOME test are highly accurate, discordant results, including inaccurate fetal sex
prediction, may occur due to placental, maternal, or fetal mosaicism, or other causes. Cell-free DNA (cfDNA) testing does
not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive MaterniT
GENOME test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of
test results. A negative MaterniT GENOME result does not ensure an unaffected pregnancy. An uninformative result may
be reported, the causes of which may include, but are not limited to, insufficient sequencing coverage, sequencing noise or
artifacts, amplification bias, or insufficient fetal fraction. The MaterniT GENOME test is not intended to identify pregnancies
at risk for neural tube defects or ventral wall defects. cfDNA testing for whole chromosome abnormalities (including sex
chromosomes) and for subchromosomal abnormalities could lead to the potential discovery of both fetal and maternal
genomic abnormalities that could have minor, or no, clinical significance. Evaluating the significance of a positive or a
non-reportable test result may involve both invasive testing and additional studies on the pregnant woman. Such studies
may lead to a diagnosis of whole or partial chromosomal abnormalities in the pregnant woman, which on occasion could
be associated with benign or malignant neoplasms. cfDNA testing may not accurately identify fetal triploidy, balanced
rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal
diagnosis with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, and/
or maternal systemic lupus erythematosus (SLE). The results of this testing, including the benefits and limitations, should
be discussed with a qualified health care provider. Management decisions, including termination of the pregnancy, should
not be based on the results of this test alone.
Note
This laboratory-developed test was developed and its performance characteristics determined by Sequenom Laboratories.
It has not been cleared or approved by the U.S. FDA. This test is used for clinical purposes. It should not be regarded as
investigational or for research. Although laboratory-developed tests to date have not been subject to U.S. FDA regulation,
certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the
quality and validity of the tests. This laboratory is certified under CLIA to perform high complexity clinical laboratory testing
and accredited by the College of American Pathologists (CAP).
References
1.Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
2.Tynan J, et al. Karyotype-level noninvasive prenatal testing by sequencing of circulating cell-free DNA from maternal plasma. Poster presented at the
International Society of Prenatal Diagnosis Annual Meeting. July 2015.
3.Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
4.Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
5.Mazloom AR, et al. American Society of Human Genetics. November 2012.
6.Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
Nilesh Dharajiya, MD
Laboratory Director, Sequenom Laboratories
xx/xx/2015
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 4 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Negative
Test Result
Fetal sex consistent with female
Uninformative for 22q11.2
Laboratory Director’s Comments
Genome-wide analysis of this specimen did not identify copy number variants ≥7 Mb. The fetal fraction in this sample
(<8%) was insufficient to reliably detect a loss of chromosomal material in region 22q11, in the size range associated
with DiGeorge syndrome (0.8-3.6 Mb). Clinical correlation is suggested. Ultrasound evaluation and/or prenatal
diagnostic procedures should be considered. Please refer to the “Performance” and “Limitations of the Test” sections
of this laboratory report for additional information.
Result Table
Content
AUTOSOMAL ANEUPLOIDIES
Result
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
Other autosomal aneuploidies
Negative
SEX CHROMOSOME ANEUPLOIDIES
Fetal sex
Consistent with female
Monosomy X (Turner syndrome)
Negative
XYY (Jacobs syndrome)
Negative
XXY (Klinefelter syndrome)
Negative
XXX (Triple X syndrome)
Negative
GENOME-WIDE COPY NUMBER VARIANTS ≥7 Mb
Gains/Losses ≥7 Mb
Negative
SELECT MICRODELETION REGIONS
22q11 deletion (associated with DiGeorge syndrome)
Uninformative
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Negative
11q23 deletion (associated with Jacobsen syndrome)
Negative
8q24 deletion (associated with Langer-Giedion syndrome)
Negative
5p15 deletion (associated with Cri-du-chat syndrome)
Negative
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Negative
1p36 deletion syndrome
Negative
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 1 of 3
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
About the Test
The MaterniT GENOME laboratory-developed test analyzes the relative amount of chromosomal material across the
genome in circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with
singleton pregnancies at risk of fetal chromosomal and/or subchromosomal abnormalities.
Test Method
Circulating cell-free DNA was purified from the plasma component of anti-coagulated maternal whole blood. A genomic
DNA library was prepared to determine chromosomal representation by massively parallel sequencing.1 Gain or loss of
chromosomal material ≥7 Mb was evaluated across the entire genome. Select chromosomal regions (1p, 4p, 5p, 8q,
11q, 15q, and 22q) associated with known syndromes were also evaluated. Fetal sex was assessed by Y chromosome
representation.
Performance
The MaterniT™ GENOME test utilizes the same proprietary technology as the MaterniT21® PLUS test, with deeper
sequencing. In a clinical study using 448 patient samples to evaluate concordance, the MaterniT GENOME test was
equivalent in performance, for the analysis of trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies and fetal
sex classification, to the MaterniT21 PLUS test.2 The MaterniT21 PLUS test performance has previously been validated
and published extensively.1, 3-6
The MaterniT GENOME test performance characteristics for the detection of genome-wide gain or loss events ≥7 Mb,
and select microdeletions below 7 Mb, were established using in silico analytic methods, and validated using test samples
comprised of genomic DNA mixed with plasma from non-pregnant females.2 Sensitivity for genome-wide events ≥7
Mb was determined to be 95.9%. Sensitivities for select microdeletions varied by size of the event and fetal fraction.
Specificity for genome-wide events and select microdeletions was established using 1060 maternal plasma DNA samples
and was determined to be >99.9%.
Additional details can be found in the table below, and at sequenom.com/genome/performance.
Performance Characteristics
Size Range*
(Mb)
Median Size*
(Mb)
Reportable Fetal
Fraction Threshold
Sensitivity**
Specificity
NA
NA
≥4%
95.9% (61->99%)
>99.9%
22q11.2 (DiGeorge)
0.8-3.6
2.6
≥8%
53.9% (28-91%)
>99.9%
15q11.2 (Prader-Willi & Angelman)
1.2-15.8
5.1
≥4%
59.2% (16-74%)
>99.9%
11q23 (Jacobsen)
1.3-15.7
9.0
≥4%
86.7% (57->99%)
>99.9%
8q24.11-q24.13 (Langer-Giedion)
7.6-8.8
7.9
≥4%
97.2% (80->99%)
>99.9%
5p15.3 (Cri du chat)
1.5-17.8
6.0
≥4%
83.1% (48-96%)
>99.9%
4p16.3 (Wolf-Hirschhorn)
1.1-17.3
4.2
≥4%
72.9% (37-91%)
>99.9%
1p36 (1p36 deletion syndrome)
1.6-13.3
3.8
≥4%
50.7% (13-81%)
>99.9%
Region (Associated Syndrome)
Genome-wide events ≥7 Mb
* As reported in ISCA database nstd37 [http://dbsearch.clinicalgenome.org/search/]
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range
of fetal fractions observed in routine clinical NIPT. Figures in parentheses indicate upper and lower estimates for sensitivity at the
reportable fetal fraction threshold and at fetal fraction >20%, respectively. Actual sensitivity can also be influenced by other factors
such as the size of the event, total sequence counts, amplification bias, or sequence bias.
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 2 of 3
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Limitations of the Test
While the results of the MaterniT GENOME test are highly accurate, discordant results, including inaccurate fetal sex
prediction, may occur due to placental, maternal, or fetal mosaicism, or other causes. Cell-free DNA (cfDNA) testing does
not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive MaterniT
GENOME test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of
test results. A negative MaterniT GENOME result does not ensure an unaffected pregnancy. An uninformative result may
be reported, the causes of which may include, but are not limited to, insufficient sequencing coverage, sequencing noise or
artifacts, amplification bias, or insufficient fetal fraction. The MaterniT GENOME test is not intended to identify pregnancies
at risk for neural tube defects or ventral wall defects. cfDNA testing for whole chromosome abnormalities (including sex
chromosomes) and for subchromosomal abnormalities could lead to the potential discovery of both fetal and maternal
genomic abnormalities that could have minor, or no, clinical significance. Evaluating the significance of a positive or a
non-reportable test result may involve both invasive testing and additional studies on the pregnant woman. Such studies
may lead to a diagnosis of whole or partial chromosomal abnormalities in the pregnant woman, which on occasion could
be associated with benign or malignant neoplasms. cfDNA testing may not accurately identify fetal triploidy, balanced
rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal
diagnosis with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, and/
or maternal systemic lupus erythematosus (SLE). The results of this testing, including the benefits and limitations, should
be discussed with a qualified health care provider. Management decisions, including termination of the pregnancy, should
not be based on the results of this test alone.
Note
This laboratory-developed test was developed and its performance characteristics determined by Sequenom Laboratories.
It has not been cleared or approved by the U.S. FDA. This test is used for clinical purposes. It should not be regarded as
investigational or for research. Although laboratory-developed tests to date have not been subject to U.S. FDA regulation,
certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the
quality and validity of the tests. This laboratory is certified under CLIA to perform high complexity clinical laboratory testing
and accredited by the College of American Pathologists (CAP).
References
1.Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
2.Tynan J, et al. Karyotype-level noninvasive prenatal testing by sequencing of circulating cell-free DNA from maternal plasma. Poster presented at the
International Society of Prenatal Diagnosis Annual Meeting. July 2015.
3.Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
4.Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
5.Mazloom AR, et al. American Society of Human Genetics. November 2012.
6.Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
Nilesh Dharajiya, MD
Laboratory Director, Sequenom Laboratories
xx/xx/2015
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 3 of 3
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Test Result
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Positive
Gain of chromosome 1 (p36.3-p36.1) material
Laboratory Director’s Comments
A gain of chromosome 1 material was observed. It is estimated to be 15.3 Mb in size and is suggestive of a
duplication in the region 1p36.3-p36.1. This region may contain one or more clinically significant genes. Genetic
counseling and clinical correlation are recommended. Confirmatory testing is required if fetal confirmation and clinical
interpretation of the suspected event are desired. Please refer to the “Performance” and “Limitations of the Test”
sections of this laboratory report for additional information.
Description: An approximate 15.3 Mb gain of chromosome 1 material was observed, suggestive of a duplication in
the region p36.3-p36.1.
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 1 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Result Table
Content
AUTOSOMAL ANEUPLOIDIES
Result
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
Other autosomal aneuploidies
Negative
SEX CHROMOSOME ANEUPLOIDIES
Fetal sex
Consistent with female
Monosomy X (Turner syndrome)
Negative
XYY (Jacobs syndrome)
Negative
XXY (Klinefelter syndrome)
Negative
XXX (Triple X syndrome)
Negative
GENOME-WIDE COPY NUMBER VARIANTS ≥7 Mb
Gains/Losses ≥7 Mb
Positive
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Negative
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Negative
11q23 deletion (associated with Jacobsen syndrome)
Negative
8q24 deletion (associated with Langer-Giedion syndrome)
Negative
5p15 deletion (associated with Cri-du-chat syndrome)
Negative
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Negative
1p36 deletion syndrome
Negative
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 2 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
About the Test
The MaterniT GENOME laboratory-developed test analyzes the relative amount of chromosomal material across the
genome in circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with
singleton pregnancies at risk of fetal chromosomal and/or subchromosomal abnormalities.
Test Method
Circulating cell-free DNA was purified from the plasma component of anti-coagulated maternal whole blood. A genomic
DNA library was prepared to determine chromosomal representation by massively parallel sequencing.1 Gain or loss of
chromosomal material ≥7 Mb was evaluated across the entire genome. Select chromosomal regions (1p, 4p, 5p, 8q,
11q, 15q, and 22q) associated with known syndromes were also evaluated. Fetal sex was assessed by Y chromosome
representation.
Performance
The MaterniT™ GENOME test utilizes the same proprietary technology as the MaterniT21® PLUS test, with deeper
sequencing. In a clinical study using 448 patient samples to evaluate concordance, the MaterniT GENOME test was
equivalent in performance, for the analysis of trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies and fetal
sex classification, to the MaterniT21 PLUS test.2 The MaterniT21 PLUS test performance has previously been validated
and published extensively.1, 3-6
The MaterniT GENOME test performance characteristics for the detection of genome-wide gain or loss events ≥7 Mb,
and select microdeletions below 7 Mb, were established using in silico analytic methods, and validated using test samples
comprised of genomic DNA mixed with plasma from non-pregnant females.2 Sensitivity for genome-wide events ≥7
Mb was determined to be 95.9%. Sensitivities for select microdeletions varied by size of the event and fetal fraction.
Specificity for genome-wide events and select microdeletions was established using 1060 maternal plasma DNA samples
and was determined to be >99.9%.
Additional details can be found in the table below, and at sequenom.com/genome/performance.
Performance Characteristics
Size Range*
(Mb)
Median Size*
(Mb)
Reportable Fetal
Fraction Threshold
Sensitivity**
Specificity
NA
NA
≥4%
95.9% (61->99%)
>99.9%
22q11.2 (DiGeorge)
0.8-3.6
2.6
≥8%
53.9% (28-91%)
>99.9%
15q11.2 (Prader-Willi & Angelman)
1.2-15.8
5.1
≥4%
59.2% (16-74%)
>99.9%
11q23 (Jacobsen)
1.3-15.7
9.0
≥4%
86.7% (57->99%)
>99.9%
8q24.11-q24.13 (Langer-Giedion)
7.6-8.8
7.9
≥4%
97.2% (80->99%)
>99.9%
5p15.3 (Cri du chat)
1.5-17.8
6.0
≥4%
83.1% (48-96%)
>99.9%
4p16.3 (Wolf-Hirschhorn)
1.1-17.3
4.2
≥4%
72.9% (37-91%)
>99.9%
1p36 (1p36 deletion syndrome)
1.6-13.3
3.8
≥4%
50.7% (13-81%)
>99.9%
Region (Associated Syndrome)
Genome-wide events ≥7 Mb
* As reported in ISCA database nstd37 [http://dbsearch.clinicalgenome.org/search/]
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range
of fetal fractions observed in routine clinical NIPT. Figures in parentheses indicate upper and lower estimates for sensitivity at the
reportable fetal fraction threshold and at fetal fraction >20%, respectively. Actual sensitivity can also be influenced by other factors
such as the size of the event, total sequence counts, amplification bias, or sequence bias.
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 3 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Limitations of the Test
While the results of the MaterniT GENOME test are highly accurate, discordant results, including inaccurate fetal sex
prediction, may occur due to placental, maternal, or fetal mosaicism, or other causes. Cell-free DNA (cfDNA) testing does
not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive MaterniT
GENOME test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of
test results. A negative MaterniT GENOME result does not ensure an unaffected pregnancy. An uninformative result may
be reported, the causes of which may include, but are not limited to, insufficient sequencing coverage, sequencing noise or
artifacts, amplification bias, or insufficient fetal fraction. The MaterniT GENOME test is not intended to identify pregnancies
at risk for neural tube defects or ventral wall defects. cfDNA testing for whole chromosome abnormalities (including sex
chromosomes) and for subchromosomal abnormalities could lead to the potential discovery of both fetal and maternal
genomic abnormalities that could have minor, or no, clinical significance. Evaluating the significance of a positive or a
non-reportable test result may involve both invasive testing and additional studies on the pregnant woman. Such studies
may lead to a diagnosis of whole or partial chromosomal abnormalities in the pregnant woman, which on occasion could
be associated with benign or malignant neoplasms. cfDNA testing may not accurately identify fetal triploidy, balanced
rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal
diagnosis with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, and/
or maternal systemic lupus erythematosus (SLE). The results of this testing, including the benefits and limitations, should
be discussed with a qualified health care provider. Management decisions, including termination of the pregnancy, should
not be based on the results of this test alone.
Note
This laboratory-developed test was developed and its performance characteristics determined by Sequenom Laboratories.
It has not been cleared or approved by the U.S. FDA. This test is used for clinical purposes. It should not be regarded as
investigational or for research. Although laboratory-developed tests to date have not been subject to U.S. FDA regulation,
certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the
quality and validity of the tests. This laboratory is certified under CLIA to perform high complexity clinical laboratory testing
and accredited by the College of American Pathologists (CAP).
References
1.Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
2.Tynan J, et al. Karyotype-level noninvasive prenatal testing by sequencing of circulating cell-free DNA from maternal plasma. Poster presented at the
International Society of Prenatal Diagnosis Annual Meeting. July 2015.
3.Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
4.Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
5.Mazloom AR, et al. American Society of Human Genetics. November 2012.
6.Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
Nilesh Dharajiya, MD
Laboratory Director, Sequenom Laboratories
xx/xx/2015
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 4 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Positive
Test Result
Trisomy 7
Laboratory Director’s Comments
This specimen showed an increased representation of chromosome 7, suggestive of trisomy 7. Genetic counseling
and clinical correlation are recommended. Trisomy 7 mosaicsm is commonly reported. Confined placental mosaicism
(CPM) is likely. Chromosome 7 is known to be imprinted. Therefore, subsequent trisomy rescue in fetal tissue carries
residual risk for UPD. Confirmatory testing is required if fetal confirmation and clinical interpretation of the suspected
event are desired. Please refer to the “Performance” and “Limitations of the Test” sections of this laboratory report for
additional information.
q36
q35
q34
q32
q33
q31.3
q31.2
q31.1
q22
q21.2
q21.1
q11.23
q21.3
Duplication
Trisomy
q11.22
q11.1
q11.21
p11.2
p11.1
p12
p14
p13
p15.1
p15.2
p21
p22
p15.3
Chr7
Chr7
Description: An approximate 135 Mb gain of chromosome 7 material was observed, suggestive of trisomy 7.
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 1 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Result Table
Content
AUTOSOMAL ANEUPLOIDIES
Result
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
Other autosomal aneuploidies
Positive
SEX CHROMOSOME ANEUPLOIDIES
Fetal sex
Consistent with female
Monosomy X (Turner syndrome)
Negative
XYY (Jacobs syndrome)
Negative
XXY (Klinefelter syndrome)
Negative
XXX (Triple X syndrome)
Negative
GENOME-WIDE COPY NUMBER VARIANTS ≥7 Mb
Gains/Losses ≥7 Mb
Negative
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Negative
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Negative
11q23 deletion (associated with Jacobsen syndrome)
Negative
8q24 deletion (associated with Langer-Giedion syndrome)
Negative
5p15 deletion (associated with Cri-du-chat syndrome)
Negative
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Negative
1p36 deletion syndrome
Negative
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 2 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
About the Test
The MaterniT GENOME laboratory-developed test analyzes the relative amount of chromosomal material across the
genome in circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with
singleton pregnancies at risk of fetal chromosomal and/or subchromosomal abnormalities.
Test Method
Circulating cell-free DNA was purified from the plasma component of anti-coagulated maternal whole blood. A genomic
DNA library was prepared to determine chromosomal representation by massively parallel sequencing.1 Gain or loss of
chromosomal material ≥7 Mb was evaluated across the entire genome. Select chromosomal regions (1p, 4p, 5p, 8q,
11q, 15q, and 22q) associated with known syndromes were also evaluated. Fetal sex was assessed by Y chromosome
representation.
Performance
The MaterniT™ GENOME test utilizes the same proprietary technology as the MaterniT21® PLUS test, with deeper
sequencing. In a clinical study using 448 patient samples to evaluate concordance, the MaterniT GENOME test was
equivalent in performance, for the analysis of trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies and fetal
sex classification, to the MaterniT21 PLUS test.2 The MaterniT21 PLUS test performance has previously been validated
and published extensively.1, 3-6
The MaterniT GENOME test performance characteristics for the detection of genome-wide gain or loss events ≥7 Mb,
and select microdeletions below 7 Mb, were established using in silico analytic methods, and validated using test samples
comprised of genomic DNA mixed with plasma from non-pregnant females.2 Sensitivity for genome-wide events ≥7
Mb was determined to be 95.9%. Sensitivities for select microdeletions varied by size of the event and fetal fraction.
Specificity for genome-wide events and select microdeletions was established using 1060 maternal plasma DNA samples
and was determined to be >99.9%.
Additional details can be found in the table below, and at sequenom.com/genome/performance.
Performance Characteristics
Size Range*
(Mb)
Median Size*
(Mb)
Reportable Fetal
Fraction Threshold
Sensitivity**
Specificity
NA
NA
≥4%
95.9% (61->99%)
>99.9%
22q11.2 (DiGeorge)
0.8-3.6
2.6
≥8%
53.9% (28-91%)
>99.9%
15q11.2 (Prader-Willi & Angelman)
1.2-15.8
5.1
≥4%
59.2% (16-74%)
>99.9%
11q23 (Jacobsen)
1.3-15.7
9.0
≥4%
86.7% (57->99%)
>99.9%
8q24.11-q24.13 (Langer-Giedion)
7.6-8.8
7.9
≥4%
97.2% (80->99%)
>99.9%
5p15.3 (Cri du chat)
1.5-17.8
6.0
≥4%
83.1% (48-96%)
>99.9%
4p16.3 (Wolf-Hirschhorn)
1.1-17.3
4.2
≥4%
72.9% (37-91%)
>99.9%
1p36 (1p36 deletion syndrome)
1.6-13.3
3.8
≥4%
50.7% (13-81%)
>99.9%
Region (Associated Syndrome)
Genome-wide events ≥7 Mb
* As reported in ISCA database nstd37 [http://dbsearch.clinicalgenome.org/search/]
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range
of fetal fractions observed in routine clinical NIPT. Figures in parentheses indicate upper and lower estimates for sensitivity at the
reportable fetal fraction threshold and at fetal fraction >20%, respectively. Actual sensitivity can also be influenced by other factors
such as the size of the event, total sequence counts, amplification bias, or sequence bias.
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 3 of 4
Sample, Jane
Order ID: ORD12345-01234
Lab Report
Sequenom Laboratories
3595 John Hopkins Court, San Diego, CA 92121 Tel: 877.821.7266
CLIA #: 05D2015356 CAP #: 7527138
GENOME
FINAL REPORT
Ordering Provider:
Doe, John, MD
Provider Location:
Grand Rapids
Provider Phone:555-555-5555
Date Ordered:06/28/2015
Date Collected:06/29/2015
Date Received:06/30/2015
Order ID:ORD12345-01234
Patient:
Sample, Jane
DOB:09/13/1970
Patient ID:12345-01234
Specimen:1035600024
Referral Clinician:
Smith, Jane, GC
Lab Director:
Nilesh Dharajiya, MD
Date Reported:
07/07/2015 6:00 PM PT
Limitations of the Test
While the results of the MaterniT GENOME test are highly accurate, discordant results, including inaccurate fetal sex
prediction, may occur due to placental, maternal, or fetal mosaicism, or other causes. Cell-free DNA (cfDNA) testing does
not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive MaterniT
GENOME test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of
test results. A negative MaterniT GENOME result does not ensure an unaffected pregnancy. An uninformative result may
be reported, the causes of which may include, but are not limited to, insufficient sequencing coverage, sequencing noise or
artifacts, amplification bias, or insufficient fetal fraction. The MaterniT GENOME test is not intended to identify pregnancies
at risk for neural tube defects or ventral wall defects. cfDNA testing for whole chromosome abnormalities (including sex
chromosomes) and for subchromosomal abnormalities could lead to the potential discovery of both fetal and maternal
genomic abnormalities that could have minor, or no, clinical significance. Evaluating the significance of a positive or a
non-reportable test result may involve both invasive testing and additional studies on the pregnant woman. Such studies
may lead to a diagnosis of whole or partial chromosomal abnormalities in the pregnant woman, which on occasion could
be associated with benign or malignant neoplasms. cfDNA testing may not accurately identify fetal triploidy, balanced
rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal
diagnosis with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, and/
or maternal systemic lupus erythematosus (SLE). The results of this testing, including the benefits and limitations, should
be discussed with a qualified health care provider. Management decisions, including termination of the pregnancy, should
not be based on the results of this test alone.
Note
This laboratory-developed test was developed and its performance characteristics determined by Sequenom Laboratories.
It has not been cleared or approved by the U.S. FDA. This test is used for clinical purposes. It should not be regarded as
investigational or for research. Although laboratory-developed tests to date have not been subject to U.S. FDA regulation,
certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the
quality and validity of the tests. This laboratory is certified under CLIA to perform high complexity clinical laboratory testing
and accredited by the College of American Pathologists (CAP).
References
1.Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
2.Tynan J, et al. Karyotype-level noninvasive prenatal testing by sequencing of circulating cell-free DNA from maternal plasma. Poster presented at the
International Society of Prenatal Diagnosis Annual Meeting. July 2015.
3.Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
4.Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
5.Mazloom AR, et al. American Society of Human Genetics. November 2012.
6.Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
Nilesh Dharajiya, MD
Laboratory Director, Sequenom Laboratories
xx/xx/2015
34-40500R1.0 0715
Sequenom® and MaterniT™ are trademarks of Sequenom. © 2015 Sequenom Laboratories.
MaterniT™ GENOME Lab Report
Page 4 of 4
Sample, Jane
Order ID: ORD12345-01234
QUALITY OF SCIENCE™
ABOUT THE COMPANY
ABOUT THE TEST
Sequenom Laboratories, a wholly
owned subsidiary of Sequenom, Inc.,
is a CAP-accredited and Clinical
Laboratory Improvement Amendment
(CLIA) certified molecular diagnostics
laboratory dedicated to improving
The MaterniT GENOME test is a laboratory-developed test that was
developed, validated and performed exclusively by Sequenom Laboratories.
The test has not been cleared or approved by the US Food and Drug
Administration (FDA). Although laboratory-developed tests to date have not
been subject to US FDA regulation, certification of the laboratory is required
under the Clinical Laboratory Improvement Amendments (CLIA) to ensure
the quality and validity of the test. Sequenom Laboratories is certified under
CLIA as qualified to perform high complexity clinical laboratory testing and is
accredited by the College of American Pathologists.
revolutionary laboratory-developed
tests for a variety of prenatal conditions.
Sequenom Laboratories pioneered NIPT
with the launch of its MaterniT21 PLUS
broad menu of prenatal tests.
SEQUENOM®, MaterniT™, and
Sequenom Laboratories™ are trademarks
of Sequenom, Inc. All other trademarks
are the property of their respective
owners.
©2015 Sequenom Laboratories.
All rights reserved.
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
[email protected]
sequenom.com/laboratories
No test is perfect. While the results of the MaterniT GENOME test are highly
accurate, discordant results, including inaccurate fetal sex prediction, may
occur due to: placental, maternal, or fetal mosaicism or neoplasm; vanishing
twin; prior maternal organ transplant; or other causes. Cell-free DNA
(cfDNA) testing does not replace the accuracy and precision of prenatal
diagnosis with CVS or amniocentesis. A patient with a positive MaterniT
invasive prenatal diagnosis for confirmation of test results. A negative
locus. The MaterniT GENOME test is not intended to identify pregnancies
at risk for neural tube defects. cfDNA testing for whole chromosome
abnormalities (including sex chromosomes) and for subchromosomal
abnormalities could lead to the potential discovery of both fetal and maternal
genomic abnormalities that could have minor, or no, clinical significance.
Evaluating the significance of a positive or a non-reportable test result may
involve both invasive prenatal testing and additional studies on the mother.
Such investigations may lead to a diagnosis of maternal chromosomal or
subchromosomal abnormalities, which on occasion may be associated with
benign or malignant maternal neoplasms. cfDNA testing may not accurately
identify fetal triploidy, balanced rearrangements, or the precise location
of subchromosomal duplications or deletions; these may be detected by
prenatal diagnosis with CVS or amniocentesis. The ability to report results
may be impacted by maternal BMI, maternal weight, and/or maternal
systemic lupus erythematosus (SLE). The results of this testing, including
the benefits and limitations, should be discussed. Management decisions,
including termination of the pregnancy, should not be based on the results
of this test alone.
REFERENCES
1. Di Gregorio E, et al. Large cryptic genomic rearrangements with apparently normal karyotypes
detected by array-CGH. Mol Cytogenet. 2014;7(82).
Toll Free (within the US) at
877.821.7266
QUALITY OF SCIENCE™
2. Zhao C, et al. Detection of fetal subchromosomal abnormalities by sequencing circulating
cell-free DNA from maternal plasma. Clin Chem. 2015 Apr;61(4):608-616.
34-40500R1.0 0815