Georgia Esoteric and Molecular Lab, LLC

 

Test Ordering Code: 2131

CPT Codes:

Turnaround Time:

7-10 business days (Testing can be expedited upon special request)

Specimen:

Two tubes containing 4-5 mL of whole blood; one in sodium heparin and one in EDTA vacutainer transported at room temperature. Skin biopsy or other tissue can be submitted in a medium available from the laboratory. Frozen or refrigerated specimens are not accepted .

Clinical Significance:

Graphic representation of the ratio plots of the analyzed data provides a genomic profile. Any imbalances present are identified directly on the ratio plots. Any observed imbalance is confirmed by FISH. This test will detect gain or loss of chromosome region ranging from 100 Kb to 2 Mb. It does not detect balanced rearrangements such as translocations, inversions, smaller deletions or point mutations.

Indications for Testing:

 

Methodology:

Aarray based comparative genomic hybridization. This technique is used to detect unbalanced (gain or loss) of chromosome regions. Genomic clones from specific regions of the genome are arrayed on a glass slide. Differentially labeled patient and reference DNA are cohybridized to the array. The ratio of the hybridization signal of the patient to reference DNA determines the copy number of each clone. For this test Spectral GenomicsT 2600 array chips (slides) with BAC clones at 1 Mb interval are utilized

Reference Interval:

Abnormal results reported as observed.

References: