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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:
84311x1, 88271x10, 88291x1
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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