Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via the CSRP3 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 8997 | CSRP3 | 81479 | 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.
Clinical Features and Genetics
Clinical Features
Hypertrophic cardiomyopathy (HCM) is a disease of the cardiac muscle characterized by idiopathic hypertrophy of the left ventricle without predisposing conditions, such as aortic stenosis or hypertension (Cirino et al. GeneReviews). Hypertrophy of the right ventricle may also occur occasionally (Fifer and Vlahakes. Circulation 117:429-439, 2008). HCM is distinguished by extensive clinical variability with regards to the age of onset, pattern and extent of hypertrophy, and prognosis, even within individuals of the same family. Symptoms include dyspnea, exercise intolerance, chest pain, palpitations, arrhythmia, atrial fibrillation, presyncope, syncope, and sudden death (Maron et al. N Engl J Med 316:780-789, 1987). Additional features include left ventricular outflow tract obstruction, which is associated with increased risk for heart failure and cardiovascular death if left untreated (Ommen et al. J Am Coll Cardiol 46:470-476, 2005; Agarwal et al. Am Coll Cardiol 55:823-834, 2010). HCM is most often diagnosed with 2D echocardiography but can also be diagnosed by the presence of myocyte disarray upon histological examination and through genetic testing. HCM affects 1 in 500 people worldwide (Maron et al. Circulation 92:785-789, 1995).
Idiopathic dilated cardiomyopathy (DCM) is a heterogeneous disease of the cardiac muscle. It is characterized by enlargement of the left ventricle, systolic dysfunction, and diminished myocardial contractility (Hershberger et al. GeneReviews). Symptoms include arrhythmia, dyspnea, chest pain, palpitation, fainting, and congestive heart failure (Ikram et al. Br Heart J 57:521-527, 1987). Sudden death occurs in ~30% of patients with DCM (Tamburro and Wilber Am Heart J 124:1035-1045, 1992). Although symptoms of DCM usually begin in adulthood, an extensive clinical variability between individuals concerning the age of onset, penetrance, and extent of structural and functional abnormalities has been documented. Familial DCM is diagnosed based on family history and genetic testing. The prevalence of DCM has been estimated at ~1 in 2700 individuals (Codd et al. Circulation 80:564-572, 1989).
Genetics
Familial HCM is inherited in an autosomal dominant manner caused by variants in genes that encode different components of the sarcomere. Defects in fourteen genes, including CSRP3 (Chiu et al. J Am Coll Cardiol 55:1127-, 2010), account for approximately 60% of all HCM cases. Most documented causative variants in CSRP3 in patients with HCM are missense variants; however, frameshift variants have also been reported (Geier and Perrot Circulation 107:1390-1395, 2003; Bos et al. Mol Genet Metab 88:78-85, 2006). In addition to HCM, CSRP3 variants have been implicated in dilated cardiomyopathy (DCM). CSRP3-associated DCM is inherited in an autosomal dominant manner. All documented causative variants in CSRP3 in patients with DCM are missense variants (Mohapatra et al. Mol Genet Metab 80: 207-15, 2003; Hershberger et al. Clin Transl Sci 1:21-26, 2008).
Clinical Sensitivity - Sequencing with CNV PGxome
This test allows the detection of variants in rare cases of patients with HCM and DCM (Hershberger et al. Circ Heart Fail 2:253-261, 2009).
Testing Strategy
This test provides full coverage of all coding exons of the CSRP3 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
Patients with symptoms suggestive of HCM or DCM.
Patients with symptoms suggestive of HCM or DCM.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| CSRP3 | 600824 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Dilated Cardiomyopathy 1M | 607482 | |
| Familial Hypertrophic Cardiomyopathy 12 | AD | 612124 |
Related Tests
| Name |
|---|
| Comprehensive Cardiology Panel |
| Dilated Cardiomyopathy via the LAMA4 Gene |
| Sudden Cardiac Arrest Panel |
Citations
- Agarwal S, et al. (2010) "Updated meta-analysis of septal alcohol ablation versus myectomy for hypertrophic cardiomyopathy." J Am Coll Cardiol 55:823-834. PubMed ID: 20170823
- 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
- Chiu, C., et.al. (2010). "Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy A Genome-Wide Analysis." J Am Coll Cardiol. 55(11):1127-1135. PubMed ID: 20022194
- Cirino, A.L., Ho, C. (2009). "Familial Hypertrophic Cardiomyopathy Overview." PubMed ID: 20301725
- Codd MB. et al. 1989. Circulation. 80: 564-72. PubMed ID: 2766509
- Fifer MA, Vlahakes GJ. 2008. Management of symptoms in hypertrophic cardiomyopathy. Circulation 117: 429-439. PubMed ID: 18212300
- Geier, C., et.al. (2003). "Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy." Circulation 107(10): 1390-5. PubMed ID: 12642359
- Hershberger RE, Cowan J, Morales A, Siegfried JD. 2009. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ. Heart Fail. 2: 253-261. PubMed ID: 19808347
- Hershberger, R. et al. (2008) "Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy." Clin Transl Sci. 1:21-26. PubMed ID: 19412328
- Hershberger, R. et.al. (2009). "Dilated Cardiomyopathy Overview." PubMed ID: 20301486
- Ikram H. et al. 1987. British heart journal. 57: 521-7. PubMed ID: 3620228
- Maron BJ, Bonow RO, Cannon RO 3rd, Leon MB, Epstein SE. 1987. Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (1). N. Engl. J. Med. 316: 780-789. PubMed ID: 3547130
- Maron, B. J., et.al. (1995). "Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults." Circulation 92(4): 785-9. PubMed ID: 7641357
- Mohapatra, B., et.al. (2003). "Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis." Mol Genet Metab 80(1-2): 207-15. PubMed ID: 14567970
- Ommen SR, Maron BJ, Olivotto I, Maron MS, Cecchi F, Betocchi S, Gersh BJ, Ackerman MJ, McCully RB, Dearani JA, Schaff HV, Danielson GK, Tajik AJ, Nishimura RA. 2005. Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 46: 470-476. PubMed ID: 16053960
- Tamburro P., Wilber D. 1992. American heart journal. 124: 1035-45. PubMed ID: 1529877
Ordering/Specimens
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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ORDER OPTIONS
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2) Select Additional Test Options
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