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The Greenwood Genetic Center’s Cytogenetics Laboratory
offers a custom 44K olignucletotide array covering chromosome 22q12.3-qter.
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. Patients with 22q13.3 deletion
syndrome display neonatal hypotonia, global developmental delay, and absent
or severely delayed speech. Most have severe to profound mental retardation.
Other features may include large fleshy hands, dysplastic toenails,
decreased sweating, chewing of non-food items, decreased pain perception and
autistic-like features.
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.
Report: Results will be reported to the referring
physician within 3-4 weeks. In some cases, parental samples may be requested
to clarify results. The final report will be mailed to the physician’s
office.
CPT Codes: 83890, 88386 (x4), 88291
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