Hypertrophic Cardiomyopathy Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
1313 ACTC1 81405,81479 Order Options and Pricing
ACTN2 81479,81479
ALPK3 81479,81479
ANKRD1 81405,81479
BAG3 81479,81479
BRAF 81406,81479
CAV3 81404,81479
CBL 81479,81479
CSRP3 81479,81479
DES 81405,81479
FHL1 81404,81479
FLNC 81479,81479
GAA 81406,81479
GLA 81405,81479
HRAS 81404,81479
JPH2 81479,81479
KRAS 81405,81479
LAMP2 81405,81479
LZTR1 81479,81479
MAP2K1 81406,81479
MAP2K2 81406,81479
MRAS 81479,81479
MYBPC3 81407,81479
MYH6 81407,81479
MYH7 81407,81479
MYL2 81405,81479
MYL3 81405,81479
MYOZ2 81479,81479
MYPN 81479,81479
NEXN 81479,81479
NF1 81408,81479
NRAS 81479,81479
PLN 81403,81479
PPP1CB 81479,81479
PRKAG2 81406,81479
PTPN11 81406,81479
RAF1 81406,81479
RASA2 81479,81479
RIT1 81479,81479
RRAS 81479,81479
SHOC2 81405,81479
SOS1 81406,81479
SOS2 81479,81479
TCAP 81479,81479
TNNC1 81405,81479
TNNI3 81405,81479
TNNT2 81406,81479
TPM1 81405,81479
TTR 81404,81479
VCL 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
1313Genes x (50)81479 81403, 81404, 81405, 81406, 81407, 81408, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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.

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 characterized by hypertrophy of the left ventricle; however, hypertrophy of the right ventricle may also occur (Gersh et al. 2011. PubMed ID: 22068435). Symptoms are extremely variable and range from asymptomatic to shortness of breath (dyspnea), exercise intolerance, chest pain, palpitations, arrhythmia, syncope, heart failure, and sudden death (Maron et al. 1987. PubMed ID: 3547130). HCM can also present with left ventricular outflow tract obstructions, which are associated with increased risk for heart failure (Ommen et al. 2005. PubMed ID: 16053960). HCM is one of the most common inherited cardiovascular diseases with a prevalence of 1 in every 500 individuals in the general population (Maron et al. 1995. PubMed ID: 7641357). Age of onset is highly variable and can range from infancy to adulthood. Penetrance is incomplete and age dependent. Onset and severity cannot be predicted as there is variable expressivity, even within families.

Advantages of testing include: identification of asymptomatic individuals at risk of carrying pathogenic variants and in the prognosis of patients. Positive cases have poorer outcomes compared to negative cases (Olivotto et al. 2008. PubMed ID: 18533079).

HCM can also present as part of a syndrome, as HCM is a common feature in patients with Noonan syndrome/RASopathies, Pompe, and Fabry disease. Although onset in these syndromes is typically in infancy, a small percentage of adults with isolated HCM have pathogenic variants in genes associated with Noonan syndrome/RASopathies (Ceyhan-Birsoy et al. 2018. PubMed ID: 29696744). Fabry disease patients often have renal and cardiac features with onset of HCM in early to late adulthood (Sachdev et al. 2002. PubMed ID: 11914245; Nakao et al. 2003. PubMed ID: 12911529).

Genetics

The majority of HCM-related genes are inherited in an autosomal dominant manner. However, other modes of inheritance have been described, such as autosomal recessive (ALPK3, GAA, MYPN); X-linked recessive (FHL1 and GLA), and X-linked dominant (LAMP2). The DES, LZTR1, MYPN, and TCAP genes are associated with autosomal dominant and recessive cardiac disorders.

HCM is considered a disorder of the sarcomere, as 30-60% of individuals with HCM have pathogenic variants in genes encoding components of the sarcomere, which is responsible for the contraction of heart muscle (Van Driest et al. 2005. PubMed ID: 15819282; Bos et al. 2014. PubMed ID: 24793961). Pathogenic variants in MYBPC3 and MYH7 are the most common cause of inherited HCM (Van Driest et al. 2005. PubMed ID: 15819282; Bos et al. 2014. PubMed ID: 24793961). The spectrum of pathogenic variants in HCM includes missense, nonsense, frameshift, splicing, and copy number variants. Loss-of-function variants in the MYBPC3 gene are a known cause of disease; however, in most other genes they are of uncertain significance.

The majority of pathogenic variants are thought to be familial; however, de novo events have been reported rarely (Döhlemann et al. 2000. PubMed ID: 10957787).

Copy number variation appears to be a rare cause, as pathogenic deletions were found in 1-2% of patients with HCM (Mademont-Soler et al. 2017. PubMed ID: 28771489; Mates et al. 2018. PubMed ID: 29511324).

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

This test will detect pathogenic variants in 30-60% of hypertrophic cardiomyopathy patients (Van Driest et al. 2005. PubMed ID: 15819282; Bos et al. 2014. PubMed ID: 24793961). A number of factors (age of onset, family history, septal shape, ventricular wall thickness, hypertension) can significantly impact the sensitivity, which ranged from 6% (hypertension only) to 80% (all clinical markers) (Bos et al. 2014. PubMed ID: 24793961).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 98.5% coverage of all coding exons of the genes 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 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

Candidates for this test include patients with clinical findings consistent with HCM in the absence of conditions known to predispose to it. Individuals with a combination of onset <45 years old, family history of HCM/sudden cardiac death, maximum left ventricular wall thickness >20 mm, and reverse curve morphology on echocardiogram are most likely to have a positive test result (Bos et al. 2014. PubMed ID: 24793961).

Diseases

Name Inheritance OMIM ID
Amyloidogenic Transthyretin Amyloidosis AD 105210
Cardio-Facio-Cutaneous Syndrome AD 115150
Cardiofaciocutaneous syndrome 2 AD 615278
Cardiofaciocutaneous syndrome 3 AD 615279
Cardiofaciocutaneous syndrome 4 AD 615280
Cardiomyopathy, Dilated, 1KK AD 615248
Cardiomyopathy, familial hypertrophic AD 26
Cardiomyopathy, familial hypertrophic 27 AR 618052
Cardiomyopathy, Familial Hypertrophic, 17 AD 613873
Costello Syndrome AD 218040
Danon Disease XL 300257
Dilated Cardiomyopathy 1Aa AD 612158
Dilated Cardiomyopathy 1N AD 607487
Fabry's Disease XL 301500
Familial Hypertrophic Cardiomyopathy 1 192600
Familial Hypertrophic Cardiomyopathy 10 AD 608758
Familial Hypertrophic Cardiomyopathy 11 AD 612098
Familial Hypertrophic Cardiomyopathy 12 AD 612124
Familial Hypertrophic Cardiomyopathy 13 AD 613243
Familial Hypertrophic Cardiomyopathy 14 AD 613251
Familial Hypertrophic Cardiomyopathy 15 AD 613255
Familial Hypertrophic Cardiomyopathy 16 AD 613838
Familial Hypertrophic Cardiomyopathy 18 AD 613874
Familial Hypertrophic Cardiomyopathy 2 AD 115195
Familial Hypertrophic Cardiomyopathy 20 AD 613876
Familial Hypertrophic Cardiomyopathy 3 AD 115196
Familial Hypertrophic Cardiomyopathy 4 AD 115197
Familial Hypertrophic Cardiomyopathy 6 AD 600858
Familial Hypertrophic Cardiomyopathy 7 AD 613690
Familial Hypertrophic Cardiomyopathy 8 AD 608751
Glycogen Storage Disease Type II AR 232300
LEOPARD Syndrome AD 151100
LEOPARD Syndrome 2 AD 611554
LEOPARD Syndrome 3 AD 613707
Limb-Girdle Muscular Dystrophy, Type 2G AR 601954
Long QT Syndrome 9 AD 611818
Myofibrillar Myopathy, BAG3-Related AD 612954
Myofibrillar Myopathy, Desmin-Related AR 601419
Myopathy, X-Linked, With Postural Muscle Atrophy XL 300696
Nemaline myopathy 11, autosomal recessive AR 617336
Neurofibromatosis, Type 1 AD 162200
Neurofibromatosis-Noonan Syndrome AD 601321
Noonan Syndrome 1 AD 163950
Noonan Syndrome 10 AD 616564
Noonan syndrome 11 AD 618499
Noonan syndrome 2 AR 605275
Noonan Syndrome 3 AD 609942
Noonan Syndrome 4 AD 610733
Noonan Syndrome 5 AD 611553
Noonan Syndrome 6 AD 613224
Noonan Syndrome 7 AD 613706
Noonan Syndrome 8 AD 615355
Noonan Syndrome 9 AD 616559
Noonan syndrome-like disorder with loose anagen hair 2 AD 617506
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia AD 613563
Noonan-Like Syndrome With Loose Anagen Hair AD 607721

Related Tests

Name
PGxome®
Comprehensive Cardiology Panel
Dilated Cardiomyopathy Panel
Hypertrophic Cardiomyopathy and other MYH7-Related Disorders via the MYH7 Gene
Hypertrophic Cardiomyopathy via the MYBPC3 Gene
Left Ventricular Noncompaction (LVNC) Panel

Citations

  • Bos et al. 2014. PubMed ID: 24793961
  • Ceyhan-Birsoy et al. 2018. PubMed ID: 29696744
  • Döhlemann et al. 2000. PubMed ID: 10957787
  • Gersh et al. 2011. PubMed ID: 22068435
  • Mademont-Soler et al. 2017. PubMed ID: 28771489
  • Maron et al. 1987. PubMed ID: 3547130
  • Maron et al. 1995. PubMed ID: 7641357
  • Mates et al. 2018. PubMed ID: 29511324
  • Nakao et al. 2003. PubMed ID: 12911529
  • Olivotto et al. 2008. PubMed ID: 18533079
  • Ommen et al. 2005. PubMed ID: 16053960
  • Sachdev et al. 2002. PubMed ID: 11914245
  • Van Driest et al. 2005. PubMed ID: 15819282

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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2) Select Additional Test Options

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