Specimen/Test Type
Specimen Volume
Chromosomes 1 ‐ 3 ml
(standard and high resolution )
Peripheral Blood
303‐724‐5701
888‐659‐4932 toll free
FEDERAL EXPRESS OR LOCAL COURIER SERVICE PROVIDED AT NO CHARGE Collection Information
Analysis Protocol
Collect in 4 ml sodium heparin (green top) tube at room temperature
Fluorescence in situ hybridization (FISH)
(includes standard chromosome analysis )
Trisomy screen, microdeletion/microduplication
Peripheral Blood
Postnatal
20 cells counted, 5 analyzed, 3‐5 karyotypes
Trisomy screen by FISH (13, 18, 21, X, Y) 75‐300 interphase nuclei scored per probe
2 ‐ 3 ml
(includes volume for chromosome analysis)
TRANSPORT MEDIA, SUPPLIES, AND KITS PROVIDED AT NO CHARGE
Collect in 4 ml sodium heparin (green top) tube at room temperature
Microdeletion/duplication: 10 metaphase spreads and 100 interphase for duplications
FISH includes chromosome protocol (if chromosomes
not previously done)
Chromosomal SNP Microarray (CMA) 2 ml
Collect in 4 ml EDTA (purple/lavendar top) tube at room temperature
Single nucleotide polymorphism (SNP) microarray
OR
AND
3 ml
Peripheral Blood
AND
Collect in 4 ml sodium heparin (green top) tube at room temperature If <5 ml blood available: 2 ml in sodium heparin (green top) tube If <2 ml blood available: call to discuss testing options
Full service array technology, including:
Analysis
Review of literature
Up‐to‐date interpretation
5‐cell chromosome analysis:
5 cells counted, 3 analyzed, 3 karytopes
2 ml
Peripheral Blood
Collect in 4 ml sodium heparin (green top) tube OR 4 ml EDTA (purple/lavender top) tube at room temperature
Targeted CMA analysis (preferred method); exceptions exist, call laboratory for additional information
Collect desired tissue using asceptic technique.
See analysis for each test type above
Chromosomal SNP Microarray (CMA) & 5‐cell chromosome analysis
Parental/Familial Follow‐up Studies
(for abnormal micorarray )
Skin biopsy
(available for all postnatal test types)
3 ‐ 4 mm3
Skin punch biopsy
Place in sterile, screw‐top tube/container filled with tissue culture medium or sterile saline solution.
Label container with patient's name, a second patient identifier, and the type of tissue obtained.
Hold at room temperature; refrigerate if overnight. Materials for obtaining/shipping a sample are available from CGL.
For all fetal tissue samples: please send biopsy only ‐ laboratory cannot not accept fetal parts
Pregnancy Loss
Chromosomes (with REFLEX to CMA )
(culture failure REFLEX to trisomy FISH )
Placenta and/or fetal tissue (gonad, cartilage, kidney preferred)
0.5 ‐ 1 cm3
Collect asceptically in sterile, plastic, screw‐top tube filled with sterile transport media.
20 cells counted, 5 analyzed, 3‐5 karyotypes
Options to REFLEX to CMA protocol, or trisomy FISH protocol (upon culture failure)
For reflex to CMA option: Fetal tissue is preferred (gonad, cartilage, kidney) and/or placenta with maternal decidua removed Fluorescence in situ hybridization (FISH)
Trisomy screen, microdeletion/microduplication
0.5 ‐ 1 cm3
Collect asceptically in sterile, plastic, screw‐top tube filled with sterile transport media.
8 ‐ 10 Slides
Chromosomal SNP Microarray (CMA) OR
Chromosomal SNP Microarray (CMA) & 5‐cell chromosome analysis
Placenta and/or fetal tissue (gonad, cartilage, kidney preferred)
Paraffin embedded tissue slides, unstained
Fetal tissue preferred (gonad, cartilage or kidney) and/or placenta with maternal decidua removed 0.5 ‐ 1 cm3
Collect asceptically in sterile, plastic, screw‐top tube filled with sterile transport media.
If both fetal and placental specimens are available, send in separate tubes and label each tube with specimen type.
Trisomy screen by FISH (13, 18, 21, X, Y) 75‐300 interphase nuclei scored per probe
Microdeletion/duplication: 10 metaphase spreads and 100 interphase for duplications
Single nucleotide polymorphism (SNP) microarray
Full service array technology, including:
Analysis
Review of literature
Up‐to‐date interpretation
5‐cell chromosome analysis:
5 cells counted, 3 analyzed, 3 karytopes
Revised October, 2016
303‐724‐5701
888‐659‐4932 toll free
Specimen
CVS
Volume
Chromosomes
15 ml
15 ‐ 20 mg
(CVS chromosomes include STAT trisomy FISH)
(does not include volume for FISH)
(includes volume for FISH)
Chromosomes with REFLEX to CMA
25 ml
20 ‐ 25 mg
Fluorescence in situ hybridization (FISH):
STAT trisomy screen by FISH
Prenatal
Amnio
Volume
(includes standard chromosome analysis)
STAT trisomy screen by FISH with
REFLEX to CMA or Chromosomes
FISH for microdeletion/microduplication
(includes standard chromosome analysis)
Chromosomal SNP Microarray (CMA) (includes standard chromosome analysis)
25 ml
15 ‐ 20 mg
25 ‐ 30 ml
20 ‐ 25 mg
25 ml
15 ‐ 20 mg
25 ‐ 30 ml
20‐25 mg
OR
Chromosomal SNP Microarray (CMA)
& 5‐cell chromosome analysis
25 ‐ 30 ml 20 ‐ 25 mg
Collection Information
FEDERAL EXPRESS OR LOCAL COURIER SERVICE PROVIDED AT NO CHARGE TRANSPORT MEDIA, SUPPLIES, AND KITS PROVIDED AT NO CHARGE
Analysis Protocol
20 cells counted; 5 analyzed; 3‐5 karyotyped
All amniotic Fluid samples: Collect in sterile, plastic, screw‐top tubes at room temperature.
All chorionic villus sampling (CVS) sampeles: Collect in sterile, plastic, screw‐top tubes filled with sterile transport media at room temperture. All percutaneous umbilical blood sampling (PUBS): Reflex to CMA protocol
Trisomy screen by FISH (13, 18, 21, X, Y) 75‐300 interphase nuclei scored per probe
See collection volumes in postnatal (peripheral blood) section. Microdeletion/duplication: 10 metaphase spreads and 100 interphase for duplications
Collect in 4 ml EDTA (purple/lavendar) top tube (for chromosomes/FISH) AND collect in 4 ml sodium heparin (purple) top tube for testing options that include CMA.
Reflex to Chromosome protocol OR CMA protocol
Single nucleotide polymorphism (SNP) microarray
Inadequate Samples:
If volume is insufficient or sample is compromised (e.g. blood‐
tinged amniotic fluid), CMA testing will be performed on DNA extracted from cultured cells, thus extending turnaround time. Full service array technology, including:
Analysis
Review of literature
Up‐to‐date interpretation
5‐cell chromosome analysis:
Additional Services
5 cells counted, 3 analyzed, 3 karytopes
Culture for molecular or biochemical studies
OR
Culture and freeze for future studies
Available for multiple sample types: postnatal, prenatal, and fetal tissue.
Sample Volume requested: based on requirements of the referral lab and will be in addition to any volume needed for testing performed by CGL.
Send‐out testing: include Information for Referral Specimens form, signed waiver, payment for shipping. Please note: Cryopreserved cells for future studies cannot be held indefinitely due to limited space. If you no longer need cryopreserved cells, please inform the Colorado Genetics Laboratory as soon as possible.
Establish cells in culture and prepare flasks for transport, per ordering clinician's instructions. Sample transported to referral laboratory, along with required paperwork prepared by ordering clinician. Charges apply for shipping sample to reference laboratory.
CGL will maintain cells in culture until studies are complete or cryopreserve them for longer‐term storage.
Collect desired tissue using asceptic technique.
Place in sterile, screw‐top tube/container filled with tissue culture medium or sterile saline solution.
Label container with patient's name, a second patient identifier, and the type of tissue obtained.
Hold at room temperature; refrigerate if overnight. Transport media is available (upon request).
Revised October, 2016
FEDERAL EXPRESS OR LOCAL COURIER SERVICE PROVIDED AT NO CHARGE 303‐724‐5701
888‐659‐4932 toll free
Specimen
Volume
Collection Information
Collect in a sodium heparin‐rinsed syringe and place in a red top (no additive) tube at room temperature
Bone marrow aspirate
1 ‐ 3 ml
If specimen is not heparinized at collection, place in a
green top, sodium heparin tube at room temperature
TRANSPORT MEDIA, SUPPLIES, AND KITS PROVIDED AT NO CHARGE
Analysis Protocol
20 cells counted and analyzed
3 karyotypes or
2 karyotypes from each clone
Indicated in cases of packed marrow
Cancer
Bone marrow core
3 ‐ 10 mm
Sterile, plastic, screw‐top tube containing sterile media
at room temperature
20 cells counted and analyzed
3 karyotypes or
2 karyotypes from each clone
Peripheral blood specimen for cancer studies should be
provided if circulating blasts are present
Lymph node
0.2 ‐ 1 cm3
Solid tumor
2 ‐ 4 cm3
Peripheral blood for cancer studies
3 ‐ 6 ml
Collect asceptically, avoiding areas of necrosis
Sterile, plastic, screw‐top tube filled with sterile media at
room temperature
4 ml green top, sodium heparin tube at room temperature
20 cells counted and analyzed
3 karyotypes or
2 karyotypes from each clone
20 cells counted and analyzed
3 karyotypes
Indicated for high WBC and presence of peripheral blasts
Fluorescence in situ hybridization (FISH)
Chromosome abnormalities common in cancer
Performed on standard chromosome preparations of all types
See collection
information
above for the
specimen type
to be sent
Also may be performed on:
Paraffin embedded, formalin fixed sections (4‐5 micron
thick paraffin sections on Plus slides)
Cytospin fluids
Buccal smears
Touch preps
* Call for details *
100‐300 interphase nuclei scored
Revised October, 2016