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Laboratory Test Directory

Caveolin 3 (CAV3) Gene Sequencing

Components

Name Method Department Units
Caveolin 3 (CAV3) Gene Sequencing Polymerase chain reaction (PCR)
Analysis of the entire coding region: Sequence analysis
Sanger sequencing
DNA extraction
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL-8 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze

Reasons for Rejection

  • Centrifuged specimen
  • Clotted specimen
  • Frozen specimen
  • Wrong collection tube
  • Delayed or improper handling

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but not required. If available, please also muscle biopsy results.

This test is a full gene sequencing analysis of the CAV3 (caveolin 3) gene, which has been associated with a group of muscle diseases known as the caveolinopathy.

Pathogenic variants (mutations) in the CAV3 gene can cause five different phenotypes, which can be seen in different members of the same family: 1) Limb-girdle muscular dystrophy 1C (LGMD1C), 2) Isolated hyperCKemia, 3) Rippling muscle disease (RMD), 4) Distal myopathy (DM), and 5) Familial hypertrophic cardiomyopathy (HCM), without skeletal muscle manifestations. LGMD1C can be inherited in either autosomal recessive or autosomal dominant manner, while isolated hyperCKemia, RMD, DM, and Familial HCM phenotypes are typically inherited in autosomal dominant manner.

Forms

Lab Form

CPT Code

  • 81404