|Caveolin 3 (CAV3) Gene Sequencing||
Polymerase chain reaction (PCR)
Analysis of the entire coding region: Sequence analysis
|Container Type||Container Size||Specimen Volume|
Purple tube (EDTA)
|4 mL||4 mL-8 mL|
Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)
- Do not centrifuge
- Do not freeze
Reasons for Rejection
- Centrifuged specimen
- Clotted specimen
- Frozen specimen
- Wrong collection tube
- Delayed or improper handling
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.
Targeted mutation analysis for this gene is available for family members when familial mutation is known (see Test Code: FMLIS).