Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling
Use
The test is used for prenatal diagnosis of copy number changes (gains or losses) across the genome. It helps determine the size, precise breakpoints, and gene content of abnormalities detected by other methods like conventional chromosome and fluorescence in situ hybridization studies. It can also identify cryptic imbalances in apparently balanced abnormalities, assess regions linked to uniparental disomy, and evaluate regions of homozygosity related to identity by descent.
Special Instructions
A maternal blood sample is requested when ordering this test, and a paternal sample is desired but not required. Cultures from the specimen will be discarded 10 days post cytogenetic reporting. For inaccurate test selection, notify the lab if the pregnancy involves an egg donor or gestational carrier.
Limitations
This test does not detect balanced chromosome rearrangements, low-level mosaicism, point alterations, or small deletions/insertions below resolution. It may also reveal incidental findings unrelated to the initial referral reason, possibly necessitating family member studies for result interpretation.
New York Approved
Methodology
Microarray (CGH Array)
Biomarkers
LOINC Codes
- 86611-1
- 50397-9
- 62356-1
- 69965-2
- 42349-1
- 31208-2
- 85069-3
- 48767-8
- 18771-6
Result Turnaround Time
6-21 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
20 to 30 mg
Minimum Volume
12 mg
Container
15-mL tube containing 15 mL of transport media
Collection Instructions
Collect specimen by transabdominal or transcervical method, transfer to Petri dish with transport medium, and assess quality/quantity using a stereomicroscope.
Causes for Rejection
Undesirable if bloody
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | yes |