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.

ETFDH Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ETFDH
Disorders:
Clinical Utility:
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
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. Olsen, RKJ, et al., (2007) Brain 130:2045-2054.
  2. Wen et al., (2010) J Neurosurg Psychiatry 81:231-236.
  3. Schiff, M, et al. (2006) Mol Genet Metab 88(2):153-158.
  4. Gordon, N. (2006) Brain Dev 28(3):136-140.
  5. Olsen, RKJ, et al (2003) Hum Mutat 22:12-23.
  6. Spaan, AN, et al. (2005) Mol Genet Metab 86(14):441-447.
  7. Goodman, SI, et al. (2002) Mol Genet Metab 77(1-2):86-90.
  8. Yotsumoto et al., (2008) Mol Genet Metab 94:61-67.

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