Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

GNE (M712T) Mutation Analysis

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
GNE
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Carrier detection
  • Identification of at-risk family members
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
238
Turnaround Time:
2-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81400x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 359.9: Myopathy, unspecified
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Eisenberg, I et al., Mutation Spectrum of GNE in Hereditary Inclusion Body Myopathy Sparing Quadriceps Hum Mutat 21(1):99 (2003)
  2. Eisenberg I, et al., The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy Nature Genet 29:83-87 (2001)

Back To Top