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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

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)

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