Test ID CPT2Z Carnitine Palmitoyltransferase II Deficiency, Full Gene Analysis
Useful For
Confirmation of diagnosis of carnitine palmitoyltransferase II deficiency
Carrier screening in cases where there is a family history of carnitine palmitoyltransferase II deficiency, but disease-causing mutations have not been identified in an affected individual
Reflex Tests
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
CULFB | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm
If skin biopsy is received, fibroblast culture will be added and charged separately.
Special Instructions
Method Name
Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc)
Reporting Name
CPT2 Gene, Full Gene AnalysisSpecimen Type
VariesForms:
1. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions
2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
Specimen preferred to arrive within 96 hours of collection.
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Acceptable:
Specimen Type: Cultured fibroblasts
Container/Tube: T-75 or T-25 flask
Specimen Volume: 1 Full T-75 flask or 2 full T-25 flasks
Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours
Specimen Type: Skin biopsy
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin, T115).
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Specimen Type: Blood spot
Container/Tube:
Preferred: Collection card (Whatman Protein Saver 903 Paper)
Acceptable: Ahlstrom 226 filter paper, or Blood Spot Collection Card (T493)
Specimen Volume: 2 to 5 Blood spots on collection card (Whatman Protein Saver 903 Paper; Ahlstrom 226 filter paper; or Blood Spot Collection Card, T493)
Collection Instructions:
1. An alternative blood collection option for a patient >1 year of age is finger stick.
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Minimum Volume
Blood: 1 mL; Blood Spots: 5 punches-3 mm diameter
Specimen Stability Information
Specimen Type | Temperature | Time |
---|---|---|
Varies | Varies |
Clinical Information
Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty-acid oxidation. There are 3 distinct clinical phenotypes: a lethal neonatal form, an early-onset infantile form, and a late-onset adult myopathic form. The lethal neonatal and early-onset infantile forms are characterized by liver failure, cardiomyopathy, seizures, hypoketotic hypoglycemia, peripheral myopathy and early death. The adult-onset myopathic form is the most common type and is characterized by exercise-induced muscle pain and weakness and may be associated with myoglobinuria. Males are more likely to be affected with the myopathic form than females.
Initial screening can be done with plasma acylcarnitines. Definitive diagnosis can be made by detection of reduced CPT enzyme activity. Mutations in the CPT2 gene are responsible for CPT II deficiency and sequencing of this gene is recommended after positive biochemical analysis.
Reference Values
An interpretive report will be provided.
Cautions
In some cases, DNA alterations of undetermined significance may be identified.
Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical and biochemical findings, additional testing should be considered.
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.
Day(s) Performed
Performed weekly, Varies
Report Available
14 daysPerforming Laboratory

Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
81404-CPT2 (carnitine palmitoyltransferase 2) (eg, carnitine palmitoyltransferase II deficiency), full gene sequence
Fibroblast Culture for Genetic Test
88233-Tissue culture, skin or solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)