Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

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 zebras@genedx.com.

CPT2 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CPT2
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
334
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81404x1
New York Approved:
No
ABN Required:
Yes
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)
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Thuillier L. et al, (2003) Hum Mutat 21:493-501.
  2. Bonnefont, J. et al, (2004) Mol Aspects Med 25 :495-520.
  3. Wieser, T. (2006) Carnitine Palmitoyltransferase II Deficiency.
  4. Isackson, P. et al, (2006) Mol Genet Metab 89:323-31.
  5. Vladutiu, G. et al, (2000) Mol Genet Metab 70:134-41.
  6. Orngreen, M. et al, (2005) Ann Neurol 57:60-6.
  7. Martin, M. et al, (2000) Hum Mutat 15:579-80.
  8. Taggart, et al, (1999) Hum Mutat 13 :210-20.
  9. Wieser, et al, (2007) Neurology 60 :1351-1353.
  10. Musumeci, O. et al, (2007) Neuromuscul Disord Jul 23 [Epub].

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