CHROMOSOME ARRAY (aCGH), PARENTAL
Pseudonyms: Parental Array, Parental Microarray, Chromosomal Microarray, CMA, Constitutional Array, Array Comparative Genomic Hybridization, Array CGH, Whole Genome Array
TURNAROUND TIME: 14 days
TESTING METHODOLOGY: Array Comparative Genomic Hybridization
- Collect: 3-5 mL peripheral blood in EDTA (purple)
- Min. Collection: 2 mL EDTA
- Transport: peripheral blood in EDTA (purple) at 20-25oC
- Stability: Ambient: 24 hours; Refrigerated: 72 hours; Frozen: unacceptable
- Unacceptable Conditions: Frozen or clotted specimens; specimens in anticoagulants other than EDTA
Test Summary: Test can detect copy number variations (gains and losses) throughout the genome. The array covers almost 1,000 gene regions important in development and over 245 recognized genetic syndromes. The array has a minimum average resolution of 35 kilobases across the entire genome. In addition, there is a higher resolution coverage of approximately 10 kilobases in the targeted regions. These include regions involved in common microdeletion and micoduplication syndromes, genes associated with Mendelian disorders and the subtelomeric and pericentromeric regions of the chromosomes.
Methods: Microarray analysis using an array of 135,000 oligonucleotide probes; abnormalities are confirmed by fluorescence in situ hybridization (FISH)
Interpretation: Only the region of the abnormality identified in the patient's child will be evaluated. Carrier status for autosomal recessive conditions is not reported. Consultation with a genetic professional is recommended for test interpretation.
Test Limitations: Balanced chromosomal rearrangements (reciprocal translocations, Robertsonian translocations, inversions and balanced insertions) and imbalances of regions not represented on the microarray will not be detected. This microarray is not designed to detect mosaicism.
FDA Approval: This test is not approved by the FDA and it should used as an adjunct to other clinical information.
Indications for Use:
- Follow-up test for parents of patients with a previously identified abnorrmality by aCGH for whom FISH studies or chromosome analysis are not feasible.