Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

CHM Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CHM
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Development of an appropriate management plan
  • Prenatal diagnosis in families with a defined mutation
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
296
Turnaround Time:
5-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 743.5: Congenital anomalies of posterior segment
  • 362.74: Pigmentary retinal dystrophy, Retinal dystrophy, albipunctate, Retinitis pigmentosa
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM. Mutational analysis of patients with the diagnosis of choroideremia. Hum Mutat. 2002 Sep;20(3):189-96.
  2. http://www.retina-international.org/sci-news/repmut.htm
  3. Smaoui N, T.L. McGee, N. Nwokekeh, C.Weigel-DiFranco, B. Rosner, J.F. Hejtmancik, E.L. Berson Mutation Spectrum of the CHM Gene in Patients With Choroideremia. ARVO May 6-10, 2007 Fort Lauderdale, Florida.
  4. Genetic Diseases of the Eye. Ed. Elias I. Traboulsi. New York and Oxford: Oxford University Press, 1998.
  5. Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH (1990) Cloning of a gene that is rearranged in patients with choroideraemia. Nature 347:674-7.

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