Chromosomal Microarray, Congenital, Blood
Use
This test serves as a first-tier, postnatal testing method for individuals exhibiting multiple anomalies that are not specific to well-delineated genetic syndromes, or those with nonsyndromic developmental delays, intellectual disabilities, or autism spectrum disorders, as recommended by the American College of Medical Genetics and Genomics. It is also utilized for follow-up testing in patients with unexplained developmental delays, intellectual disabilities, or congenital anomalies with previously normal chromosome studies. This chromosomal microarray can determine the size, precise breakpoints, gene content, and reveal complexities of abnormalities not detected by other lower-resolution methods. It also assesses regions of homozygosity related to uniparental disomy or identity by descent.
Special Instructions
Not provided.
Limitations
This test does not detect balanced chromosome rearrangements or all types and instances of uniparental disomy, and it is not designed to detect mosaicism, although it might be detected in some cases. The test does not detect point alterations or small deletions or insertions below the assay’s resolution limits. The chromosomal microarray data does not provide information about the structural nature of an imbalance. There are also factors like improper specimen collection or transportation that may interfere with the test performance.
New York Approved
Methodology
Microarray (Expression Array)
Biomarkers
Unknown CNV
Copy Number Region
LOINC Codes
- 62343-9 - CMA # change pnl Microarray
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 62378-5 - Chrom copy # change
- 69965-2 - Clinical cytogeneticist review
- 42349-1
- 31208-2 - Specimen source
- 85069-3 - Lab test method
- 18771-6 - Provider signing name
- 48767-8 - Annotation comment Imp
Result Turnaround Time
7-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3-mL EDTA tube and 4-mL sodium heparin tube
Minimum Volume
1-mL whole blood, EDTA preferred
Container
Green top (sodium heparin) and lavender top (EDTA)
Collection Instructions
1. Invert several times to mix blood. 2. Send whole blood specimens in original tubes. Do not aliquot.
Storage Instructions
Express Mail or equivalent for shipping if not on courier service.
Causes for Rejection
Improper mixing, excessive transport time, inadequate sample volume, improper packaging.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |