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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:
4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Buccal Brushes

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
* For ICD9 to ICD10 conversion please follow this link https://www.aapc.com/icd-10/codes/
ICD-9 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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