Form B - Addendum to the iGene® Request & Consent Form
Opting Out of Receiving Results for Sex Chromosome
Aneuploidies & Deletion Syndromes
Addendum to the iGene® Request & Consent Form
To be signed by patients choosing to opt out of receiving results for Sex Chromosome
Aneuploidies and /or Deletion Syndromes.
This form must be accompanied by the standard iGene® Request and Consent Form.
The iGene® NIPT test routinely covers screening for Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18) and Patau
Syndrome (Trisomy 13). It can also detect Sex Chromosome Aneuploidies, three Deletion Syndromes and Fetal Sex. iGene® does
not report incidental findings.
Patients who do not wish to find out if their fetus carries a Sex Chromosome Aneuploidy and/or any of the three Deletion
Syndromes can opt out by signing this Addendum, and iGene® will not report these results.
I wish to opt out of receiving results for Sex Chromosome Aneuploidies:
• Monosomy X (Turner Syndrome)
Affects one in 2,500 females1
Turner syndrome results when one X chromosome is normal and the other X chromosome is missing or altered. Up to half of affected females are born
with a heart defect, complications of which can be life threatening.
• XXX (Trisomy X)
Affects one in 1,000 females1
Triple X syndrome results from an extra copy of the X chromosome in each of a female's cells. There is an associated risk of learning disabilities and
delayed development of speech, language and motor skills. Seizures or kidney abnormalities occur in about 10% of affected females.
• XXY (Klinefelter Syndrome)
Affects one in 500 to 1,000 males1
The condition interferes with sexual development, such as reduced levels of testosterone, which can lead to delayed, or incomplete puberty, chest
enlargement, reduced facial and body hair, and infertility. It also causes abnormal functioning of the testes.
• XYY (Jacobs Syndrome)
Affects one in 1,000 males1
Jacob’s syndrome is the result of one extra copy of the Y chromosome in each cell. There is an increased risk of learning disabilities and delayed
development of speech, language and motor skills. A small percentage of males are diagnosed with autistic spectrum disorders.
Signature of Patient:
I wish to opt out of receiving results for Deletion Syndromes:
• 1p36 Deletion Syndrome
Affects one in 5,000-10,000 newborns1
This condition results when a piece of chromosome 1 is missing, and typically causes severe intellectual disability. Most affected individuals have limited
or no speech, as well as behavior problems. Most have structural abnormalities of the brain resulting in seizures.
• 5p- Deletion Syndrome (Cri du Chat Syndrome)
Affects one in 20,000-50,000 newborns1
This condition results when a piece of chromosome 5 is missing. Affected infants may have intellectual disability and delayed development, low birth
weight, and weak muscle tone in infancy.
• 2q33.1 Microdeletion Syndrome
This rare condition results when a piece of chromosome 2 is missing. It affects the motor neurons, which are the specialised nerve cells in the brain and
spinal cord that control the movement of muscles. The disorder usually causes severe mental retardation and behaviour problems.
Source: 1. Nussbaum, Robert L., Roderick R. McInnes, Huntington F. Willard, Ada Hamosh, and Margaret W. Thompson. Thompson & Thompson Genetics in Medicine. Philadelphia: Saunders/Elsevier,
2007. Print.
Patient Consent Statement:
Signature of Patient:
My doctor and/or genetic counsellor has provided me with information regarding the iGene® Test, including the accuracy and
limitations of the test. I understand that although iGene® is highly accurate, it is still a screening test.
I have read, or have had read to me, the above consent addendum. I understand I must sign this Addendum to opt out of receiving
results for either Sex Chromosome Aneuploidies, Deletion Syndromes, or both.
I understand that by opting out of receiving results for Sex Chromosome Aneuploidies and/or Deletion Syndromes, these tests will be
run in any case, but the results will not be reported even if the laboratory identifies a result as “High Risk” or “Detected”. By signing this
consent form, I understand that I release iGene Diagnostics, Genomics For Life and any of their agents or employees from any liability
associated with my decision to opt out of receiving results for Sex Chromosome Aneuploidies and/or Deletion Syndromes.
Signature of Patient:
Date:
Patient Name:
Patient ID:
Signature of Doctor:
Date:
Doctor Name:
Practice Name:
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Version: 33-0026-02
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