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Institute of Metabolic Disease at Baylor Research Institute
CPTII- Unknown Mutation Detection by DNA Sequencing

Direct DNA sequencing is an accurate and proven technique for mutation detection in human genes. The Molecular Diagnostic Laboratory offers complete, cost-effective sequencing studies for all MCAD and CPTII mutation types, including substitutions, insertions and deletions.

Proof of definitive MCAD or CPTII diagnosis must be provided to the IMD for the sequencing test to be performed; evidence of proof may include:
• Acylcarnitine Profile whose results are consistent with MCAD or CPTII
• Enzyme assay results demonstrating reduced enzyme activity of MCAD or CPTII
• In-vitro probe for mitochondrial beta oxidation defects; probe results must demonstrate evidence for either MCAD or CPTII deficiency.

The sequencing will not be performed if the required information is not provided to the IMD upon sample submission.  Please contact Jeanna Firmin or Dr. Yang at 214-820-4533 for additional information.

Download Test Requisition

Department: Molecular Diagnostics
Methodology: Polymerase Chain Reaction (PCR) to amplify all of exons of gene and direct sequencing by Applied Biosystems sequencer 3100

Sample:
• Whole Blood (preferred) - 1 mL of whole blood collected in an EDTA (lavender top) or an ACD (yellow top) tube. For the ACD tube, solution A is preferred. Minimum sample volume - 0.5 mL
• Dried Blood spot card - 5 completely filled spots
• Fibroblasts - 2 confluent T-25 flasks

Shipping:
• Dried blood spot cards and Whole Blood (preferred) - Ship overnight at room temperature using a guaranteed overnight courier.
• Fibroblasts - Ship overnight Monday through Wednesday only. Ship at room temperature using a guaranteed overnight courier.

Special Notes: Contact the Molecular Diagnostics Laboratory Director prior to submitting a sample.

Turnaround Time: 6-8 weeks from receipt of sample.

CPT Code: 83890, 83891 x12, 83892, 83894 x12, 83898 x12, 83904 x12, 83909 x12 and 83912

Cost: $2000.00

Related tests: Acylcarnitine Profile, Carnitine palmitoyltransferase II deficiency (CPT II) DNA analysis (S113L), CPTII-Panel of 8 mutations, Carnitine Palmitoyltransferase (CPTII) Enzyme Assay, Mitochondrial Beta Oxidation Defects