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Institute of Metabolic Disease at Baylor Research Institute
Carnitine Palmitoyltransferase (CPTII) Enzyme Assay

Mitochondrial carnitine palmitoyltransferase II (CPT II) deficiency, an autosomal recessive disorder of fatty-acid oxidation, is one of the most common inherited disorders of metabolic disease. CPT II deficiency presents as three distinct phenotypes (neonatal, infantile, and adult onset) with reduced CPT II activity in multiple organs. The CPT II enzyme assay is a definitive diagnosis.

Download Test Requisition

Department: Molecular Diagnostics
Methodology: Quantitative palmitoylcarnitine measurements using L-(methyl-14C)carnitine-HCL

Sample:
• Fibroblasts – 2 confluent T-25 flasks
• Whole Blood – 10 mL of peripheral blood collected aseptically in ACD tube (preferred) or Sodium Heparin tube. For the ACD tube, solution A or B is acceptable.
Minimum acceptable sample volume – 6 mL
A normal whole blood control must be submitted with the patient sample. The normal whole blood control should be collected, handled and shipped in the same manner as the patient sample.
• Amniocytes – This prenatal research test must be approved by the IMD Medical Director or the Molecular Diagnostics Laboratory Director. Please call 214-820-4533 for further information.

Shipping and Handling
• Whole Blood – Ship overnight Monday through Wednesday only. Ship at room temperature using a guaranteed overnight courier.
• Fibroblasts - Ship overnight Monday through Wednesday only. Ship at room temperature using a guaranteed overnight courier.

Whole blood samples must be collected and shipped on the same day. In addition, the sample must be shipped overnight o preserve the integrity of the sample.

Cost:
$900.00

CPT Code:
85999 (for blood)
88233 (for fibroblasts)
84157
82658

Turnaround time: 4-6 weeks from sample receipt. Special note: Samples will be batched and analyzed at least every two weeks.

Whole blood:
• 2-4 weeks from sample receipt

Fibroblasts:
• 4-6 weeks from sample receipt

Related tests: Acylcarnitine Profile, Mitochondrial Beta Oxidation Defects, CPTII-Panel of 8 mutations, CPTII - Unknown Mutation detection by DNA Sequencing, Carnitine palmitoyltransferase II deficiency (CPT II) DNA analysis (S113L)