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Caveolinopathy via the CAV3 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
CAV3 81404 81404,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9169CAV381404 81404,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

The caveolinopathies are disorders of skeletal and cardiac muscle that include limb-girdle muscular dystrophy type 1C (LGMD1C; OMIM 607801), rippling muscle disease (RMD; OMIM 606072), hypertrophic cardiomyopathy (OMIM 192600), and long-QT syndrome 9 (LQT9; OMIM 611818). Remarkable variability in expression is known and any of the phenotypes may occur in different members of the same family (Bruno et al. GeneReviews, 2007). LGMD1C is characterized by mild-to-moderate proximal muscle weakness, calf hypertrophy, and positive Gower sign with onset in the first decade of life (Minetti et al. Nat Genet 18:365–368, 1998). Serum CK levels are elevated up to 25-fold above normal and muscle biopsies reveal a dystrophic pattern with increased numbers of central nuclei and increased connective tissue (eg., Fulizio et al. Hum Mutat 25:82-89, 2005). RMD is a non-dystrophic muscle disorder characterized by mechanically-induced muscle contractions (Betz et al. Nat Genet 28:218-219, 2001). Onset of symptoms occurs in childhood and includes painful muscle stiffness, weakness, cramping, percussion-induced muscle mounding, and muscle hypertrophy. Muscle biopsies reveal increases in fiber size variability, centrally located nuclei, and mild type-1 fiber predominance (Betz et al. 2001). A single case report of hypertrophic cardiomyopathy due to a CAV3 variant is known (Hayashi et al. Biochem Biophys Res Comm 313:178-184, 2004). CAV3 variants are also causative for long-QT syndrome via a gain of function increase in late sodium current (Vatta et al. Circulation 114:2104-2112, 2006). Other associations with CAV3 variants include hyperCKemia (Carbone et al. Neurology 54:1373–1376, 2000), sudden infant death syndrome (Cronk et al. Heart Rhythm 4:161-166, 2007), and distal myopathy (Tateyama et al. Neurology 58:323–325, 2002).


The caveolinopathies are most often inherited in an autosomal dominant mode with one parent of an affected child also affected. However, reports of recessive inheritance are also known (McNally et al. Hum Molec Genet 7:871-877, 1998; Kubisch et al. Ann Neurol 57:303-304, 2005; Muller et al. Neuromuscul Disord 16:432-436, 2006), though the health status of the carrier parents in these cases has not been well established. The same CAV3 variant can cause varied clinical and histological consequences between and within families.

Clinical Sensitivity - Sequencing with CNV PGxome

Analytical sensitivity should be high as nearly all reported CAV3 variants are the type expected to be detected by sequencing of genomic DNA. Clinical sensitivity is difficult to predict because caveolinopathies are rare. Among a cohort of 663 patients who had a range of clinical phenotypes and were seen at an Italian neuromuscular disorders center, seven probands with caveolin deficient muscle biopsies and CAV3 variants were found (Fulizio et al. Hum Mutat 25:82-89, 2005). Among 905 unrelated long QT syndrome patients, four were found to have CAV3 variants (Vatta et al. Circulation 114:2104- 2112, 2006).

Testing Strategy

This test provides full coverage of all coding exons of the CAV3 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Individuals with clinical signs consistent with one of the associated phenotypes. Individuals with reduced to absent caveolin-3 immunoreactivity at the plasma membrane and abnormal dysferlin staining.


Official Gene Symbol OMIM ID
CAV3 601253
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Betz, R. C., et.al. (2001). "Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease." Nat Genet 28(3): 218-9. PubMed ID: 11431690
  • Carbone, I., et.al. (2000). "Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia." Neurology 54(6): 1373-6. PubMed ID: 10746614
  • Claudio Bruno, et.al. (2007). "Caveolinopathies."
  • Cronk, L. B., et.al. (2007). "Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3." Heart Rhythm 4(2): 161-6. PubMed ID: 17275750
  • Fulizio, L., et.al. (2005). "Molecular and muscle pathology in a series of caveolinopathy patients." Hum Mutat 25(1): 82-9. PubMed ID: 15580566
  • Fulizio, L., et.al. (2005). "Molecular and muscle pathology in a series of caveolinopathy patients." Hum Mutat 25(1): 82-9. PubMed ID: 15580566
  • Hayashi, T., et.al. (2004). "Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy." Biochem Biophys Res Commun 313(1): 178-84. PubMed ID: 14672715
  • Kubisch, C., et.al. (2005). "Autosomal recessive rippling muscle disease with homozygous CAV3 mutations." Ann Neurol 57(2): 303-4. PubMed ID: 15668980
  • McNally, E. M., et.al. (1998). "Caveolin-3 in muscular dystrophy." Hum Mol Genet 7(5): 871-7. PubMed ID: 9536092
  • Minetti, C., et.al. (1998). "Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy." Nat Genet 18(4): 365-8. PubMed ID: 9537420
  • Muller, J. S., et.al. (2006). "Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy." Neuromuscul Disord 16(7): 432-6. PubMed ID: 16730439
  • Tateyama, M., et.al. (2002). "Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy." Neurology 58(2): 323-5. PubMed ID: 11805270
  • Vatta, M., et.al. (2006). "Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome." Circulation 114(20): 2104-12. PubMed ID: 17060380
  • Vatta, M., et.al. (2006). "Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome." Circulation 114(20): 2104-12. PubMed ID: 17060380


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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