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 firstname.lastname@example.org.
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
- Lab Method:
- Exon Array CGH
- Test Code:
- Turnaround Time:
- 3-4 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 84311x1, 88271x10, 88291x1
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 277.85: Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
- Thuillier L. et al, (2003) Hum Mutat 21:493-501.
- Bonnefont, J. et al, (2004) Mol Aspects Med 25 :495-520.
- Wieser, T. (2006) Carnitine Palmitoyltransferase II Deficiency.
- Isackson, P. et al, (2006) Mol Genet Metab 89:323-31.
- Vladutiu, G. et al, (2000) Mol Genet Metab 70:134-41.
- Orngreen, M. et al, (2005) Ann Neurol 57:60-6.
- Martin, M. et al, (2000) Hum Mutat 15:579-80.
- Taggart, et al, (1999) Hum Mutat 13 :210-20.
- Wieser, et al, (2007) Neurology 60 :1351-1353.
- Musumeci, O. et al, (2007) Neuromuscul Disord Jul 23 [Epub].