Comparative genomic hybridization (CGH) or Chromosomal Microarray Analysis (CMA) is a recent technology development that allows for an entire genome to be analyzed in more detail than is possible using conventional cytogenetics. Conventional Cytogenetics can detect changes in the amount of DNA >5Mb. Convential Molecular genetic techniques allow us to detect changes of as little as one base pair of the DNA sequence, however the target area or gene has to be identified in advance to make this possible. Microarrays combine the assets of both conventional molecular and cytogenetics to allow a whole genome screen to be performed but with the ability to detect changes smaller than 5Mb. This allows for the exact boundaries of micro-duplications and/or microdeletions to be detected. In turn, the specific genes in these segments can be identified, which may be of clinical significance.
CMA may be ordered for anyone with dysmorphic features, unexplained mental retardation/developmental delay, congenital anomalies not specific to a genetic syndrome, seizures, speech delay, multiple miscarriages, tumor analysis to aid in diagnosis, and any patient with normal chromosome analysis. The ACMG recommends CMA for patients with multiple anomalies not specific to a well delineated genetic syndrome, apparently nonsyndromic DD/ID, and autism spectrum disorders.
CPT Code: 81228
Specimen Requirements: 2-5 mL Blood- EDTA tube (Lavender Top)
Turn-around-time: 28 days
OUHSC Genetics Laboratory 1122 NE 13th Street, Suite 1400, Oklahoma City, OK 73104
Phone (405)271-3589 Fax (405)271-7117 After hours phone (405)496-9514
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