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CPT1A Del/Dup

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

CPT1A

Disorders:

• Carnitine Palmitoyltransferase IA Deficiency

Clinical Utility:

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

Lab Method:

Exon Array CGH

ORDERING

Test Code:

906

Turnaround Time:

3-4 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

84311x1, 88271x10, 88291x1

List Price:

$500.00

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)

REFERENCES

1. Bonnefont et al., (2004) Mol Aspects Med 25:495-520.
2. Brown et al., (2001) J Lipid Res 42:1134-1142
3. Gobin et al., (2002) Hum Genet 111:179-189.
4. Korman et al., (2005) Mol Genet Metab 86:337-343
5. Bennett et al., (2004) Mol Genet Metab 82:59-63.
6. Bennett, M. (Updated [Mar. 24, 2009]).

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