22q13 Custom Array CGH

Clinical info The Greenwood Genetic Center’s Cytogenetics Laboratory offers a custom 44K olignucletotide array covering chromosome 22q12.3-qter. Patients with 22q13.3 deletion syndrome display neonatal hypotonia, global developmental delay, and absent or severely delayed speech. Most have severe to profound intellectual disability. Other features may include large fleshy hands, dysplastic toenails, decreased sweating, chewing of non-food items, decreased pain perception and autistic-like features.
Indications This array is designed to diagnose patients with 22q13.3 deletion syndrome (Phelan McDermid syndrome) and to refine the breakpoints in those already diagnosed either by FISH or karyotyping.
Specimen Requirements 3-5ml peripheral blood collected in an EDTA (lavender top) tube for DNA isolation.
Transport The specimen should be kept at room temperature and delivered via overnight shipping. Do not freeze.
Turnaround time 26 days. In some cases, parental samples may be needed to clarify results
CPT Codes Stacking CPT Codes: 83890, 88386 (x4), 88291

New 2013 CPT Code: 81228
Cost $1650
Contact For further information contact Kellie King, MS , Lab Counselor or Barb DuPont,PhD, Cytogenetics Laboratory Director at 1-800-473-9411

Cytogenetics Lab

The Cytogenetics Lab provides high quality analysis for the detection of both constitutional chromosomal aberrations as well as abnormalities related to hematological malignancies

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