In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at email@example.com.
CPT2 Gene Sequencing
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of biochemical diagnosis
- Carrier testing
- Prenatal diagnosis in at risk pregnancies
- Lab Method:
- Capillary Sequencing
- Test Code:
- Turnaround Time:
- 4-5 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- Alternative Specimen:
- Oral Rinse (30-40 mL), Dried Blood Spots
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Neurology 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].