| Chromosome Microarray Assay (8000100051) | |
|---|---|
| Test Mnemonic: | CMA |
| Specimen Requirements: | |
| Container: | Lavender (EDTA) or green (Sodium heparin) tube (CMA using CytoScan) 2x ORAcollect-Dx swab (gently rub lower gums 10 times on each side of mouth for each swab) (CMA using CytoScan) Fresh and frozen tissue (CMA using CytoScan) Formalin-fixed and paraffin embedded tissue sections (CMA using OncoScan) High quality genomic DNA
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| Minimum Volume: | 1 ml of whole blood 2x ORAcollect-Dx swabs 5 unstained slides (10 micron) 200 ng genomic DNA (for CytoScan) or 80 ng (for OncoScan).
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| Storage/Transport: | Refrigerate sample. Do not freeze |
| Specimen Preparation: | No processing is required |
| Stability: | Refrigerated: 72 hours |
| Causes for Rejection: | Incomplete and/or incorrect sample identification, frozen samples, incorrect collection container. |
| Reference Range: | N/A |
| Turnaround Time: | 10-12 Days |
| Methodology: | Whole Genome Chromosome Microarray |
| Performed: | Molecular Diagnostics Laboratory |
| Synonyms: | Microarray; Chromosome microarray; Genomic microarray |
| Clinical Indication: | Developmental disabilities or congenital anomalies; various tumors. |
| Patient Preparation : | Patient/Legal Guardian genetic counseling and informed consent are recommended for germline genetic testing. Patient clinical information is helpful to interpret test result. Please submit the “Informed Consent for Chromosome Microarray (CMA) Testing” form with patient samples. |
| CPT 4 Code: | 81229 (germline test using CytoScan or OncoScan); 81277 (somatic tumor test using CytoScan or OncoScan)
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| Note: | The purpose of the chromosome microarray test is to look for the presence of DNA copy number variations (CNVs) including copy-neutal absence or loss of heterozygosity (AOH or LOH) throughout the entire genome. This type of genetic testing may be used to confirm a diagnosis in a person affected by an illness or may be used in individuals who have a family history of a genetic condition to determine the presence of disease-causing CNVs and AOH. Or it can be used to detect somatic CNVs and LOH in tumor specimens, aiding in diagnosis and management.
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| When ordering tests for which Medicare or Medicaid reimbursement will be sought, physicians should only order tests that are medically necessary for the diagnosis or treatment of the patient. Components of the organ or disease panels may be ordered individually. The diagnostic information must substantiate all tests ordered and must be in the form of an ICD-10 code or its verbal equivalent. | |