Hypertrophic Cardiomyopathy via the MYBPC3 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
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
3131MYBPC381407 81407, 81479 $890 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.

For Reflex to PGxome pricing click here.

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

For Sanger Sequencing click here.

Turnaround Time

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.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

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).

Genetics

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.

Testing Strategy

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.

Gene

Official Gene Symbol OMIM ID
MYBPC3 600958
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Familial Hypertrophic Cardiomyopathy 4 AD 115197

Related Tests

Name
Comprehensive Cardiology Panel
Left Ventricular Noncompaction (LVNC) Panel
Pan Cardiomyopathy Panel
Sudden Cardiac Arrest Panel

Citations

  • 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

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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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