Hypertrophic Cardiomyopathy Panel
Summary and Pricing
Test Method
Exome Sequencing with CNV DetectionTest Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
---|---|---|---|---|---|
1313 | Genes x (64) | 81479 | 81403(x1), 81404(x6), 81405(x11), 81406(x11), 81407(x4), 81408(x1), 81479(x94) | $990 | 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 Custom Panel tool.
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).
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 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 98.6% 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. 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
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).
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).
Genes
Inheritance | Abbreviation |
---|---|
Autosomal Dominant | AD |
Autosomal Recessive | AR |
X-Linked | XL |
Mitochondrial | MT |
Diseases
Related Tests
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.
- 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
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.