In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st. If you have any questions or inquiries, please call us at 301-519-2100 or email us at email@example.com.
ETFB Gene Sequencing
FORMS AND DOCUMENTS
- Clinical Utility:
- Diagnostic confirmation
- Carrier testing
- Prenatal diagnosis in at-risk pregnancies
- Lab Method:
- Capillary Sequencing Reflex to Exon Array
- Test Code:
- Turnaround Time:
- 4-5 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- New York Approved:
- ABN Required:
- 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)
- Wen et al., (2010) J Neurosurg Psychiatry 81:231-236.
- Yotsumoto et al., (2008) Mol Genet Metab 94:61-67.
- Olsen, RKJ, et al., (2007) Brain 130:2045-2054.
- Goodman, SI, et al. (2002) Mol Genet Metab 77(1-2):86-90.
- Spaan, AN, et al. (2005) Mol Genet Metab 86(14):441-447.
- Gordon, N. (2006) Brain Dev 28(3):136-140.
- Olsen, RKJ, et al (2003) Hum Mutat 22:12-23.
- Schiff, M, et al. (2006) Mol Genet Metab 88(2):153-158.