DNA icon

Telethoninopathy via the TCAP 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
TCAP 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9221TCAP81479 81479,81479 $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

Variants in the titin-CAP (TCAP) gene, which encodes the sarcomeric protein telethonin, cause limb girdle muscular dystrophy type 2G (LGMD2G; OMIM 601954; Moreira et al. Nat Genet 24:163-166, 2000), dilated cardiomyopathy type 1N (CMD1N; OMIM 607487; Knöll et al. Cell 111:943-955, 2002), and hypertrophic cardiomyopathy (Hayashi et al. J Am Coll Cardiol 44:2192-2201, 2004). Affected members from three families with the LGMD phenotype have been reported to have disease onset between 2 and 15 years of age with variability in clinical severity. Marked weakness in the distal muscles of the legs manifests itself as difficulty with walking, running, and climbing stairs (Moreira et al. Am J Hum Genet 61:151-159, 1997). Some, but not all, reported patients lost the ability to walk in the 2nd to 4th decade of life (Moreira et al. 2000). Serum CK levels were slightly elevated in clinically mild cases, while those with earlier onset and more severe muscle weakness had 10- to 30-fold increased serum CK levels, calf hypertrophy, and dystrophic muscle biopsies (Moreira et al. 2000). Heart involvement was reported in three of six affected members of one family (Moreira et al. 2000). Foot drop and absent tendon reflexes without involvement of sensory and cranial nerves were found to be a common feature (Moreira et al. 1997). Heterozygous TCAP variants have also been documented to be one cause of dilated (DCM) and hypertrophic (HCM) cardiomyopathy.


Limb girdle muscular dystrophy due to TCAP variants is inherited as an autosomal recessive condition. Telethonin-associated cardiomyopathy occurs sporadically or is inherited as an autosomal dominant condition. The TCAP gene (OMIM 604488) encodes telethonin, a sarcomeric protein localized to the Z disc and a substrate for the protein titin. Limb girdle muscular dystrophy and cardiomyopathy are genetically heterogeneous; therefore, a negative TCAP sequencing test does not rule out a diagnosis of these disorders when classic clinical findings are present. If a muscle biopsy is available, immunostaining may also be an appropriate diagnostic approach.

Clinical Sensitivity - Sequencing with CNV PGxome

Telethonin appears to be a rare cause of limb girdle muscular dystrophy and cardiomyopathy. Homozygous or compound heterozygous TCAP variants have been found in three families with members affected with limb girdle muscular dystrophy (Moreira et al. 2000). Among a cohort of 389 HCM patients, four were found to have a TCAP variant (Bos et al. Mol Genet Metab 88:78-85, 2006). In a study of 482 patients (346 with HCM and 136 with DCM) Hayashi et al. found TCAP variants in two patients with HCM and one with DCM (Hayashi et al. J Am Coll Cardiol 44:2192-2201, 2004).

Testing Strategy

This test provides full coverage of all coding exons of the TCAP 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 symptoms consistent with LGMD and autosomal recessive inheritance. Individuals with sporadic or dominantly-inherited dilated or hypertrophic cardiomyopathy. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TCAP.


Official Gene Symbol OMIM ID
TCAP 604488
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


  • Bos, J. M., et.al. (2006). "Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin." Mol Genet Metab 88(1): 78-85. PubMed ID: 16352453
  • Hayashi, T., et.al. (2004). "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy." J Am Coll Cardiol 44(11): 2192-201. PubMed ID: 15582318
  • Hayashi, T., et.al. (2004). "Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy." J Am Coll Cardiol 44(11): 2192-201. PubMed ID: 15582318
  • Moreira, E. S., et.al. (1997). "The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12." Am J Hum Genet 61(1): 151-9. PubMed ID: 9245996
  • Moreira, E. S., et.al. (2000). "Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin." Nat Genet 24(2): 163-6. PubMed ID: 10655062
  • Moreira, E. S., et.al. (2000). "Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin." Nat Genet 24(2): 163-6. PubMed ID: 10655062


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

loading Loading... ×


An error has occurred while calculating the price. Please try again or contact us for assistance.

View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
Copy Text to Clipboard