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CPT1A Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
CPT1A
Disorders:
Clinical Utility:
  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
Lab Method:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
425
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81406x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 796.6: Abnormal findings on neonatal screening
  • 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. Bennett, M. (Updated [Mar. 24, 2009]).
  2. Bennett et al., (2004) Mol Genet Metab 82:59-63.
  3. Korman et al., (2005) Mol Genet Metab 86:337-343.
  4. Gobin et al., (2002) Hum Genet 111:179-189.
  5. Brown et al., (2001) J Lipid Res 42:1134-1142.
  6. Bonnefont et al., (2004) Mol Aspects Med 25:495-520.

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