CPT2 Gene Sequencing

Forms and Documents

Test Details

CPT2
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

334
4-5 weeks
2-5 mL Blood - Lavender Top Tube

Billing

81404x1
No
Yes
  • 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].