Chromosomal Microarray, Hematologic Disorders, Varies
Use
Chromosomal microarray (CMA) is crucial in identifying chromosome abnormalities in hematologic disorders, providing diagnostic, prognostic, and therapeutic insights. It enhances detection rates of genetic changes not visible by conventional chromosome analysis or FISH, using over 2 million copy number probes and about 750,000 SNP probes. This test aids in defining the size, breakpoints, and gene content of genetic changes, identifying cryptic imbalances, and assessing regions of loss of heterozygosity which are prevalent in neoplasia.
Special Instructions
The test is not suitable for detecting constitutional/congenital copy number changes or regions of excessive homozygosity. When ordered for such reasons, the test is canceled and replaced with a more appropriate one. A reason for testing must be included. DNA extraction will be performed initially, with possible subsequent karyotype or FISH tests upon request.
Limitations
This test is not FDA approved and should complement existing clinical and pathologic data. It cannot detect balanced chromosomal rearrangements, point mutations, small deletions, or insertions below assay resolution. Low-level clones may go undetected, and tetraploidy is not identified. The test can yield incidental findings unrelated to the initial testing intent.
Methodology
Microarray (SNP Array)
Biomarkers
LOINC Codes
- 94087-4
- 50397-9
- 62356-1
- 62378-5
- 69965-2
- 42349-1
- 31208-2
- 85069-3
- 48767-8
- 18771-6
Result Turnaround Time
7-14 days
Related Documents
For more information, please review the documents below
Specimen
Bone Marrow
Volume
1-2 mL
Minimum Volume
1 mL
Container
Green top (sodium heparin) or Lavender top (EDTA)
Collection Instructions
Invert several times to mix bone marrow. Send in original tube. Do not aliquot.
Storage Instructions
Ship Ambient or Refrigerated
