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 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. | |
| 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 |
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| Cost | $1650 | |
| Contact | For further information contact Kellie King, MS , Lab Counselor or Barb DuPont,PhD, Cytogenetics Laboratory Director at 1-800-473-9411 | |
Form Needed
Download ggc cyto-request-form - writable.pdf
Have Questions Need Support?
Contact our Laboratory Representative for assistance.
Kellie King, MS, CGC
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