Cytogenomic SNP Microarray - Fetal
Also known as: ARRAY FE
Use
The Cytogenomic SNP Microarray - Fetal is a diagnostic test intended to identify genomic abnormalities such as aneuploidy and microdeletions. It is used in the prenatal setting to detect chromosomal abnormalities and potential genetic disorders such as Wolf-Hirschhorn syndrome. The test evaluates genomic imbalances by analyzing DNA copy number variations (CNVs), regions of homozygosity indicating potential uniparental disomy, and ploidy alterations, which can be indicative of issues like triploidy or molar pregnancy. The array provides comprehensive genomic coverage and can identify deletions or duplications that could explain chromosomal abnormalities or contribute to genetic disorders.
Special Instructions
Counseling and informed consent are recommended before genetic testing, particularly for patients from New York, where special submission procedures apply. The test requires a Cytogenetic test request form and a Prenatal Cytogenetics Patient History Form. Arrangements for maternal contamination studies should be considered when ordering.
Limitations
This analysis does not provide detailed structural information concerning genomic imbalances. It cannot detect low-level mosaicism, sequence variants like point mutations, or balanced chromosomal rearrangements. Some genomic alterations may fall below the detection limit of the array. As a result, additional testing such as FISH or chromosome analysis may be advised for comprehensive assessment. The array's detection limit for mosaicism is above 20-30% presence in a sample.
Methodology
Microarray
Biomarkers
LOINC Codes
- 59266-7
- 62356-1
- 8251-1
Result Turnaround Time
7-21 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
15-30 mL
Minimum Volume
Not provided
Container
sterile container
Patient Preparation
Discard first 2 mL of fluid aspirated for NY clients to avoid maternal cell contamination.
Causes for Rejection
Frozen or fixed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |
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