Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Cytogenetics and Cytogenomics Laboratory aCGH


Test Description:
Whole genome oligonucleotide aCGH is offered for postnatal diagnostic evaluation of individuals with unexplained mental retardation, developmental delay, multiple congenital anomalies, autism spectrum disorder, or a clinical presentation suggestive of a chromosomal syndrome to detect submicroscopic deletions, duplications and/or cryptic rearrangements. aCGH is indicated for patients with normal chromosome analysis; however, aCGH can also be used to accurately size a chromosomal aberration for individuals with a previously identified abnormality. In addition, aCGH is indicated for individuals with an apparently balanced rearrangement and an abnormal clinical phenotype. Benign copy number variants will not be reported and parental samples may be requested for follow-up.

Specimen Requirements:
Whole blood in sodium heparin and EDTA tubes (1 green and 1 purple top), minimum 1-5 ml
Tissue Biopsy: 3 mm biopsy in sterile saline

Shipping: Samples should be received on day of collection. Keep specimens at room temperature or refrigerated.

Turnaround Time: 7- 14 days

CPT Codes: 83891, 83892, 83894, 83912, 88230, 88386

Consent Form: Postnatal Array Consent [PDF]

Requisition Form: General Test Requisition [PDF]

Other Forms:
Postnatal Array List of Diseases [PDF]
Postnatal Array Physician Infosheet [PDF]