ETFB Gene Sequencing

Forms and Documents

Test Details

ETFB
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing Reflex to Exon Array

Ordering

279
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81479x1
No
Yes
  • 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. Olsen, RKJ, et al., (2007) Brain 130:2045-2054.
  4. Goodman, SI, et al. (2002) Mol Genet Metab 77(1-2):86-90.
  5. Spaan, AN, et al. (2005) Mol Genet Metab 86(14):441-447.
  6. Gordon, N. (2006) Brain Dev 28(3):136-140.
  7. Olsen, RKJ, et al (2003) Hum Mutat 22:12-23.
  8. Schiff, M, et al. (2006) Mol Genet Metab 88(2):153-158.