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.

HESX1 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
HESX1
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:
474
Turnaround Time:
4-6 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 377.43: Optic nerve hypoplasia
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Thomas et al., (2001) Hum Molec Genet 10: 39-45
  2. Tajima et al., (2003) J Clin Endocr Metab 88: 45-50
  3. Sobrier et al., (2006) J Clin Endocr Metab 91:4528-4536
  4. McNay et al., (2007) J Clin Endocr Metab 92:691-697
  5. Dattani et al., (1998) Nat Genet 19:125-133

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