Hypertrophic Cardiomyopathy via the MYBPC3 Gene
Summary and Pricing
Test MethodExome Sequencing with CNV Detection
|Test Code||Test Copy Genes||Test CPT Code||Gene CPT Codes Copy CPT Codes||Base Price|
|3131||MYBPC3||81407||81407,81479||$890||Order Options and Pricing|
|Test Code||Test Copy Genes||Test CPT Code||Gene CPT Codes Copy CPT Code||Base Price|
|3131||MYBPC3||81407||81407, 81479||$890||Order Options and Pricing|
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.
The Sanger Sequencing method for this test is NY State approved.For Sanger Sequencing click here.
18 days on average for standard orders or 14 days on average for STAT orders.
Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Hypertrophic cardiomyopathy (HCM) is a primary disease of the cardiac muscle characterized by idiopathic hypertrophy of the left ventricle, although hypertrophy of the right ventricle may occur occasionally (Fifer and Vlahakes Circulation 117:429-439, 2008). HCM is distinguished by an extensive clinical variability between individuals with regards to the age of onset, pattern and extent of hypertrophy, and prognosis. Symptoms include dyspnea, exercise intolerance, chest pain, palpitations, arrhythmia, atrial fibrillation, 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 (Ommen et al. J Am Coll Cardiol 46:470-476, 2005). HCM affects 1 in 500 people worldwide (Maron et al. Circulation 92:785-789, 1995).
HCM is a heterogeneous genetic disease that is inherited in an autosomal dominant manner. It is caused by variants in various genes that encode sarcomeric proteins. Defects in twelve genes, including MYBPC3 (Bonne et al. Nat Genet 11:438-440, 1995; Watkins Nat Genet 11:434-437, 1995), account for approximately 60% of all HCM cases. Variants were identified in both familial and sporadic cases, with similar distribution. Variants identified in sporadic cases were either nonpenetrant or de novo. Some patients with severe phenotype were shown to have more than one variant, either in two different genes or in the same gene (Richard et al. Circulation 107:2227-2232, 2003). Over 350 different MYBPC3 causative variants have been reported in patients with HCM. The vast majority of variants consist of missense, nonsense, and small deletions or insertions. Compound heterozygous variants in the MYBPC3 gene were reported in two unrelated patients with severe neonatal hypertrophic cardiomyopathy, who died in infancy (Lekanne-Deprez et al. J Med Genet 43:829-832, 2006). Variants in MYBPC3 are also associated with dilated cardiomyopathy (Waldmüller Eur J Heart Fail 13, 1185-1192, 2011).
Clinical Sensitivity - Sequencing with CNV PGxome
This test allows the detection of variants in roughly 25% of patients with HCM (~40% of patients with detectable variants) (Richard et al. Circulation 107:2227-2232, 2003). The sensitivity of this test for DCM is not known.
This test provides full coverage of all coding exons of the MYBPC3 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.
Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).
Indications for Test
All patients with symptoms suggestive of HCM.
All patients with symptoms suggestive of HCM.
|Official Gene Symbol||OMIM ID|
|Comprehensive Cardiology Panel|
|Left Ventricular Noncompaction (LVNC) Panel|
|Pan Cardiomyopathy Panel|
|Sudden Cardiac Arrest Panel|
- Bonne, G., et.al. (1995). PubMed ID: 7493026
- Fifer MA, Vlahakes GJ. 2008. Management of symptoms in hypertrophic cardiomyopathy. Circulation 117: 429-439. PubMed ID: 18212300
- Lekanne Deprez, R. H., et.al. (2006). PubMed ID: 16679492
- 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
- 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
- Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project. 2003. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107: 2227-2232. PubMed ID: 12707239
- Waldmüller (2011) "Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure." Eur J Heart Fail 13(1):1185-1192. PubMed ID: 21750094
- Watkins, H., et.al. (1995). PubMed ID: 7493025
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.
- 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.