Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

ETFA Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ETFA
Disorders:
Clinical Utility:
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
278
Turnaround Time:
4-5 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 Billing Policy
ICD Codes:
  • 277.87: Disorders of mitochondrial metabolism, Kearns-Sayre syndrome, Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome), Mitochondrial Neurogastrointestinal Encephalopathy syndrome (MNGIE), Myoclonus with Epilepsy and with Ragged Red Fibers (MERRF syndrome), Neuropathy, Ataxia and Retinitis Pigmentosa (NARP syndrome)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Wen et al., (2010) J Neurosurg Psychiatry 81:231-236.
  2. Yotsumoto et al., (2008) Mol Genet Metab 94:61-67.
  3. Goodman, SI, et al. (2002) Mol Genet Metab 77(1-2):86-90.
  4. Spaan, AN, et al. (2005) Mol Genet Metab 86(14):441-447.
  5. Olsen, RKJ, et al (2003) Hum Mutat 22:12-23.
  6. Gordon, N. (2006) Brain Dev 28(3):136-140.
  7. Schiff, M, et al. (2006) Mol Genet Metab 88(2):153-158.
  8. Olsen, RKJ, et al., (2007) Brain 130:2045-2054.

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