Invitae Cardiomyopathy and Skeletal Muscle Disease Panel

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  • Test code: 02252
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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Test description

This test provides a comprehensive analysis of the genes associated with the inherited cardiomyopathies and skeletal muscle diseases. Myopathies are a heterogeneous group of conditions characterized by dysfunction of the cardiac and/or skeletal muscles. Given the clinical overlap between different types of cardiomyopathy and skeletal myopathy conditions, comprehensive testing enables a more efficient evaluation of multiple conditions based on a single indication.

Individuals with clinical symptoms of an inherited cardiomyopathy, with evidence of skeletal muscle involvement, may benefit from diagnostic genetic testing to establish or confirm diagnosis, clarify risks, or inform management. Asymptomatic individuals within a family with a known pathogenic variant may also benefit by avoiding activities and medications that can trigger symptoms.

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Primary panel (113 genes)

ABCC9 ACTA1 ACTC1 ACTN2 AGL ANO5 ATP2A1 B3GALNT2 B4GAT1 BAG3 BIN1 CACNA1C CAPN3 CAV3 CCDC78 CFL2 CHKB CNTN1 COL6A1 COL6A2 COL6A3 CPT2 CRYAB CSRP3 DAG1 DES DMD DNAJB6 DNM2 DOLK DPM1 DPM2 DPM3 DSC2 DSG2 DSP DYSF EMD EYA4 FHL1 FKBP14 FKRP FKTN FLNC GAA GLA GMPPB GNE HCN4 ISPD ITGA7 JUP KBTBD13 KLHL40 KLHL41 LAMA2 LAMP2 LARGE LMNA LMOD3 MATR3 MEGF10 MTM1 MYBPC3 MYH7 MYL2 MYL3 MYOT NEB PKP2 PLEC PLN PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKAG2 RAF1 RBM20 RYR1 RYR2 SCN5A SEPN1 SGCA SGCB SGCD SGCG SLC22A5 SQSTM1 STAC3 STIM1 TAZ TCAP TGFB3 TIA1 TMEM43 TMEM5 TNNC1 TNNI3 TNNT1 TNNT2 TNPO3 TPM1 TPM2 TPM3 TRAPPC11 TRIM32 TTN TTR VCL VCP

DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.
NEB: This assay detects the exon 55 deletion found in Ashkenazi Jewish individuals in association with nemaline myopathy. Exons 82-105 contain a large triplicated region. Deletion/duplication analysis excludes this region. Sequence changes in this region can be detected, but this assay cannot determine which of the three repeat units is affected (and zygosity is often ambiguous). All variants in this region are reported relative to the exon 82-89 repeat.
RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.
SEPN1: Analysis includes the NM_20451.2:c.*1107T>C variant in the 3' UTR.
TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).

Add-on preliminary-evidence genes (38 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

ANKRD1 CALR3 CHRM2 COL12A1 CTF1 CTNNA3 DTNA FHL2 GATA4 GATA6 GATAD1 HNRNPDL ILK JPH2 LAMA4 LDB3 LIMS2 LRRC10 MYF6 MYH6 MYLK2 MYOM1 MYOZ2 MYPN NEBL NEXN NKX2-5 NPPA PDLIM3 PLEKHM2 PRDM16 SUN1 SUN2 SYNE1 SYNE2 TMPO TOR1AIP1 TXNRD2

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.

Add-on autosomal recessive syndromic pediatric cardiomyopathy (7 genes)

Genes associated with early-onset cardiomyopathy as part of an autosomal recessive disorder may be included at no additional charge. Clinicians may wish to include these genes for patients who present in infancy or early childhood with clinical features of a multi-system disorder. Please note, SDHA is included due to its association with autosomal recessive mitochondrial complex II deficiency. However, SDHA is most commonly associated with autosomal dominant predisposition to cancer.

ACADVL ALMS1 DNAJC19 ELAC2 MTO1 SDHA TMEM70

SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.

Alternative tests to consider

The Invitae Arrhythmia and Cardiomyopathy Comprehensive panel is designed to provide a broad genetic analysis for primary inherited cardiomyopathy and arrhythmia conditions.

Skeletal muscle diseases may have nonspecific or overlapping features with other types of neuromuscular disorders. The Comprehensive Neuromuscular panel includes genes associated with myopathies, muscular dystrophies, and congenital myasthenic syndrome.

  • inherited cardiomyopathies and skeletal muscle diseases
    • arrhythmogenic right ventricular cardiomyopathy (ARVC)
    • central core disease
    • centronuclear myopathy
    • congenital fiber-type disproportion
    • congenital muscular dystrophy
    • dilated cardiomyopathy (DCM)
    • dystrophinopathies
      • Becker muscular dystrophy (BMD)
      • Duchenne muscular dystrophy (DMD)
    • Emery-Dreifuss muscular dystrophy
    • hypertrophic cardiomyopathy (HCM)
    • Laing distal myopathy
    • left ventricular noncompaction (LVNC)
    • limb-girdle muscular dystrophy
    • multiminicore disease
    • muscular dystrophy-dystroglycanopathies (MDDG)
    • myofibrillar myopathy
    • nemaline myoopathy
    • type VI collagenopathies
  • syndromic causes of different cardiomyopathies
    • Barth syndrome
    • Danon disease
    • Fabry disease
    • Pompe disease
    • transthyretin amyloidosis

Cardiomyopathy is a disease of the heart muscle that causes the heart to thicken, enlarge, or become rigid. These changes to the cardiac muscle cause the heart to weaken and may lead to heart failure. Cardiomyopathy can be acquired, often from another type of disease, or it can be inherited. The most common types of inherited cardiomyopathy include hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), left ventricular noncompaction (LVNC) and restrictive cardiomyopathy (RCM).

Cardiomyopathies may also be one feature of an underlying neuromuscular condition that can affect both the cardiac and skeletal muscles. Inherited skeletal myopathies or muscular dystrophies are characterized by skeletal muscle dysfunction leading to muscle weakness or muscle wasting of varying severity. The most common types of neuromuscular conditions that involve cardiomyopathy include Duchenne or Becker muscular dystrophy, limb-girdle muscular dystrophy, myofibrillar myopathy, Pompe disease, Emery-Dreifuss muscular dystrophy, Barth syndrome and Danon disease.

In addition, cardiomyopathy may also be one feature of other types of multi-system disorders, such as Noonan syndrome, Fabry disease, transthyretin amyloidosis and certain types of metabolic disorders. Please note that the genes associated with Noonan syndrome and/or autosomal recessive syndromic pediatric cardiomyopathy can also be included when placing an order for this test.

The clinical sensitivity of this test is dependent on the patient’s underlying genetic condition. This test covers the common genetic causes of hereditary cardiomyopathy and skeletal muscle diseases. For each condition, the chart below shows the percentage of clinical cases in which a pathogenic variant is expected to be identified in one of the genes on this panel. For some forms of cardiomyopathy and skeletal myopathy conditions, the underlying genetic cause remains unknown. As a result, a genetic diagnosis may not be achieved for some affected individuals, even upon testing all currently known causative genes. Adding the preliminary evidence genes will not increase the clinical sensitivity of the test at this time.

Clinical sensitivity by underlying cardiomyopathy
hypertrophic cardiomyopathy (HCM) 40%-60%
dilated cardiomyopathy (DCM) 20%-40%
left ventricular noncompaction (LVNC) 20%-30%
arrhythmogenic right ventricular cardiomyopathy (ARVC) 50%
Clinical sensitivity by underlying skeletal muscle disease
central core disease 90%
centronuclear myopathy 70%
congenital fiber-type disproportion 66%
congenital muscular dystrophy 20-46%
dystrophinopathies ~100%
Emery-Dreifuss muscular dystrophy 45-70%
Laing distal myopathy ~100%
limb-girdle muscular dystrophy Up to 70% (dependent on LGMD subtype)
myofibrillar myopathy 70%
muscular dystrophy-dystroglycanopathies (MDDG) 35-40%
multiminicore disease 30-50%
nemaline myopathy ~80%
type VI collagenopathies   ~100%

The majority of inherited cardiomyopathy conditions exhibit an autosomal dominant inheritance pattern. Cardiomyopathy due to Emery-Dreifuss muscular dystrophy, Duchenne muscular dystrophy, Fabry disease, and Barth syndrome exhibit X-linked inheritance. Some syndromic conditions, such as Alstrom syndrome, Naxos disease, Carvajal syndrome, SGCD-related limb-girdle muscular dystrophy and ELAC2, MTO1, and SDHA-related combined oxidative phosphorylation deficiency, are inherited in an autosomal recessive manner. Some genes are associated with both autosomal dominant and autosomal recessive neuromuscular conditions.

Most genetic forms of cardiomyopathy exhibit reduced penetrance, meaning that not everyone who inherits a predisposition to develop cardiomyopathy will go on to manifest the disorder. Individuals with a genetic predisposition to develop cardiomyopathy have an increased risk for cardiomyopathy at any age and frequently present with symptoms at younger ages compared to individuals with acquired cardiomyopathy. Symptoms are variable, even among affected members of the same family.

Reduced penetrance has also been observed for some of the skeletal muscle diseases that can present with cardiomyopathy including myofibrillar myopathy and distal myopathy. Other forms of skeletal myopathy such as central core disease, Bethlem myopathy, Ullrich congenital muscular dystrophy, and X-linked centronuclear myopathy are thought to be close to 100% penetrant.

The age of onset and penetrance of syndromic causes of cardiomyopathy is dependent on the disorder. Barth syndrome and Duchenne or Becker muscular dystrophy commonly present in males in childhood, while cardiomyopathy due to Fabry disease or transthyretin amyloidosis often does not present until mid to late adulthood.

The prevalence of genetic forms of cardiomyopathy and skeletal muscle diseases is dependent on the underlying condition.

ConditionEstimated prevalenceAdditional information
hypertrophic cardiomyopathy (HCM) ~1 in 500 recently, the prevalence has been suggested to be as high as 1 in 200 individuals.
dilated cardiomyopathy (DCM) ~1 in 2,500 to 1 in 3,000
arrhythmogenic right ventricular cardiomyopathy (ARVC) ~1 in 2,000 to 1 in 5,000 prevalence is increased in Italy and Greece, where it can be as high as 1 in 125 to 1 in 250.
Duchenne muscular dystrophy (DMD) ~1 in 3,000 to 1 in 5,000 newborn males
Becker muscular dystrophy (BMD) ~1 in 20,000 newborn males
limb-girdle muscular dystrophy (LGMD) ~1 in 14,500 to 1 in 123,000 recessive forms are more common than  dominant forms, LGMD2A more prevalent in southern Europe, LGMD 2I more common in northern Europe
congenital myopathy ~1 in 26,000 in the United States

Most forms of skeletal myopathy are rare, and the overall prevalence is unknown.

This test may be considered for individuals with:

  • unexplained cardiomyopathy
  • cardiomyopathy with suspicion of skeletal muscle disease
  • cardiomyopathy that may be consistent with multiple genetic cardiomyopathy conditions

  1. Ackerman MJ, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 2011 Heart Rhythm Aug; 8(8):1308-1339. PMID: 21787999
  2. Amburgey, K, et al. Prevalence of congenital myopathies in a representative pediatric united states population. Ann. Neurol. 2011; 70(4):662-5. PMID: 22028225
  3. Aoki, M. Dysferlinopathy. 2004 Feb 05. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301480
  4. Bönnemann, CG, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul. Disord. 2014; 24(4):289-311. PMID: 24581957
  5. Colombo, I, et al. Congenital myopathies: Natural history of a large pediatric cohort. Neurology. 2015; 84(1):28-35. PMID: 25428687
  6. Das, S, et al. X-Linked Centronuclear Myopathy. 2002 Feb 25. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301605
  7. DeChene, ET, et al. Congenital Fiber-Type Disproportion. 2007 Jan 12. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301436
  8. Dimachkie, MM, Barohn, RJ. Distal myopathies. Neurol Clin. 2014; 32(3):817-42, x. PMID: 25037092
  9. Fattori, F, et al. Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. J. Neurol. 2015; 262(7):1728-40. PMID: 25957634
  10. Gorokhova, S, et al. Clinical massively parallel sequencing for the diagnosis of myopathies. Rev. Neurol. (Paris). 2015; 171(6-7):558-71. PMID: 26022190
  11. Hershberger RE, et al. Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline. 2009 J Card Fail. Mar; 15(2):83-97. PMID: 19254666
  12. Hershberger, RE, Morales, A. Dilated Cardiomyopathy Overview. 2007 Jul 27. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301486
  13. Hershberger, RE, et al. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013; 10(9):531-47. PMID: 23900355
  14. Hoedemaekers YM, et al. The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. 2010 Circ Cardiovasc Genet Jun;3(3):232-239 PMID: 20530761
  15. January CT, et al. AHA/ACC/HRS guideline for the management of patients with atrial fibrillation: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the Heart Rhythm Society. 2014 J Am Coll Cardiol. Dec; 2:64(21):e1-76. PMID: 24685669
  16. Kang, PB, et al. Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015; 84(13):1369-78. PMID: 25825463
  17. Lamont, P, Laing, NG. Laing Distal Myopathy. 2006 Oct 17. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301606
  18. Lampe, AK, et al. Collagen Type VI-Related Disorders. 2004 Jun 25. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301676
  19. M, King, W, Kissel, JT. Multidisciplinary approach to the management of myopathies. Continuum (Minneap Minn). 2013; 19(6 Muscle Disease):1650-73. PMID: 24305452
  20. Maggi, L, et al. Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul. Disord. 2013; 23(3):195-205. PMID: 23394784
  21. Mah, JK, et al. A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016; 43(1):163-77. PMID: 26786644
  22. Malicdan, MCV, Nishino, I. Central Core Disease. 2007 May 16. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301565
  23. McNally EM, et al. Genetic mutations and mechanisms in dilated cardiomyopathy. 2013 J Clin Invest. Jan;123(1):19-26. PMID: 23281406
  24. McNally, E, et al. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. 2005 Apr 18. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1131/ PMID: 20301310
  25. Mercuri, E, Muntoni, F. Muscular dystrophies. Lancet. 2013; 381(9869):845-60. PMID: 23465426
  26. NCBI GeneReviews. Hypertrophic Cardiomyopathy Overview. PMID: 20301725
  27. North, KN, Ryan, MM. Nemaline Myopathy. 2002 Jun 19. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301465
  28. Pinamonti B, et al. Arrhythmogenic right ventricular cardiomyopathy: From genetics to diagnostic and therapeutic challenges. 2014 World J Cardiol. Dec 26:6(12):1234-44. PMID: 25548613
  29. Pugh TJ, et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 2014 Genet Med Aug; 16(8):601-608. PMID: 24503780
  30. Selcen, D, Engel, AG. Myofibrillar Myopathy. 2005 Jan 28. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1499/ PMID: 20301672
  31. Semsarian C, et al. New perspectives on the prevalence of hypertrophic cardiomyopathy. 2015 J Am Coll Cardiol. Mar 31;65(12):1249-1254. PMID: 25814232
  32. Stamm, DS, et al. Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. Am. J. Med. Genet. A. 2008; 146A(14):1832-41. PMID: 18553514
  33. Wang, CH, et al. Consensus statement on standard of care for congenital muscular dystrophies. J. Child Neurol. 2010; 25(12):1559-81. PMID: 21078917

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ABCC9 NM_005691.3
ACADVL NM_000018.3
ACTA1 NM_001100.3
ACTC1 NM_005159.4
ACTN2 NM_001103.3
AGL NM_000642.2
ALMS1 NM_015120.4
ANKRD1* NM_014391.2
ANO5 NM_213599.2
ATP2A1 NM_173201.3
B3GALNT2 NM_152490.4
B4GAT1 NM_006876.2
BAG3 NM_004281.3
BIN1 NM_139343.2
CACNA1C NM_000719.6
CALR3 NM_145046.4
CAPN3 NM_000070.2
CAV3 NM_033337.2
CCDC78 NM_001031737.2
CFL2 NM_021914.7
CHKB NM_005198.4
CHRM2 NM_000739.2
CNTN1 NM_001843.3
COL12A1 NM_004370.5
COL6A1 NM_001848.2
COL6A2 NM_001849.3
COL6A3 NM_004369.3
CPT2 NM_000098.2
CRYAB NM_001885.2
CSRP3 NM_003476.4
CTF1 NM_001330.3
CTNNA3 NM_013266.3
DAG1 NM_004393.5
DES NM_001927.3
DMD* NM_004006.2
DNAJB6 NM_058246.3
DNAJC19 NM_145261.3
DNM2 NM_001005360.2
DOLK NM_014908.3
DPM1 NM_003859.1
DPM2 NM_003863.3
DPM3 NM_153741.1
DSC2 NM_024422.4
DSG2 NM_001943.3
DSP NM_004415.2
DTNA NM_032978.6
DYSF NM_003494.3
ELAC2 NM_018127.6
EMD NM_000117.2
EYA4 NM_004100.4
FHL1 NM_001449.4, NM_001159702.2
FHL2 NM_201555.1
FKBP14 NM_017946.3
FKRP NM_024301.4
FKTN* NM_001079802.1
FLNC NM_001458.4
GAA* NM_000152.3
GATA4 NM_002052.3
GATA6 NM_005257.5
GATAD1 NM_021167.4
GLA* NM_000169.2
GMPPB NM_021971.2
GNE NM_001128227.2
HCN4 NM_005477.2
HNRNPDL NM_031372.3
ILK NM_004517.3
ISPD NM_001101426.3
ITGA7 NM_002206.2
JPH2 NM_020433.4
JUP NM_002230.2
KBTBD13 NM_001101362.2
KLHL40 NM_152393.3
KLHL41 NM_006063.2
LAMA2 NM_000426.3
LAMA4 NM_002290.4
LAMP2 NM_002294.2, NM_013995.2
LARGE NM_004737.4
LDB3 NM_001080116.1, NM_001171610.1
LIMS2 NM_017980.4
LMNA NM_170707.3
LMOD3 NM_198271.4
LRRC10 NM_201550.3
MATR3 NM_199189.2
MEGF10 NM_032446.2
MTM1 NM_000252.2
MTO1 NM_012123.3
MYBPC3* NM_000256.3
MYF6 NM_002469.2
MYH6 NM_002471.3
MYH7 NM_000257.3
MYL2 NM_000432.3
MYL3 NM_000258.2
MYLK2 NM_033118.3
MYOM1 NM_003803.3
MYOT NM_006790.2
MYOZ2 NM_016599.4
MYPN NM_032578.3
NEB* NM_001271208.1
NEBL NM_006393.2
NEXN NM_144573.3
NKX2-5 NM_004387.3
NPPA NM_006172.3
PDLIM3 NM_014476.5
PKP2 NM_004572.3
PLEC NM_000445.4
PLEKHM2 NM_015164.2
PLN NM_002667.3
PNPLA2 NM_020376.3
POMGNT1 NM_017739.3
POMGNT2 NM_032806.5
POMK NM_032237.4
POMT1 NM_007171.3
POMT2 NM_013382.5
PRDM16 NM_022114.3
PRKAG2 NM_016203.3
RAF1 NM_002880.3
RBM20 NM_001134363.2
RYR1* NM_000540.2
RYR2 NM_001035.2
SCN5A NM_198056.2
SDHA* NM_004168.3
SEPN1* NM_020451.2
SGCA NM_000023.2
SGCB NM_000232.4
SGCD NM_000337.5
SGCG NM_000231.2
SLC22A5 NM_003060.3
SQSTM1 NM_003900.4
STAC3 NM_145064.2
STIM1 NM_003156.3
SUN1 NM_001130965.2
SUN2 NM_015374.2
SYNE1 NM_033071.3
SYNE2 NM_182914.2
TAZ NM_000116.4
TCAP NM_003673.3
TGFB3 NM_003239.3
TIA1 NM_022173.2
TMEM43 NM_024334.2
TMEM5 NM_014254.2
TMEM70 NM_017866.5
TMPO NM_003276.2
TNNC1 NM_003280.2
TNNI3 NM_000363.4
TNNT1 NM_003283.5
TNNT2 NM_001001430.2, NM_000364.3
TNPO3 NM_012470.3
TOR1AIP1 NM_001267578.1
TPM1 NM_001018005.1
TPM2 NM_003289.3
TPM3 NM_152263.3
TRAPPC11 NM_021942.5
TRIM32 NM_012210.3
TTN* NM_001267550.2
TTR NM_000371.3
TXNRD2 NM_006440.4
VCL NM_014000.2
VCP NM_007126.3

ANKRD1: Deletion/duplication analysis is not offered for exons 3 or 4.
DMD: Analysis guarantees del/dup detection at single-exon resolution.
FKTN: Analysis includes the intronic variant NM_001079802.1:c.647+2084G>T as well as the 3 kb retrotransposon insertion in the 3' UTR at c.*4287_*4288ins3062.
GAA: Analysis includes the promoter variant NM_000152.3:c.-32-13T>G as well as the common exon 18 deletion.
GLA: Analysis includes the intronic variant NM_000169.2:c.IVS4+919G>A.
MYBPC3: Analysis includes the intronic variant NM_000256.3:c.3628-41_3628-17del25.
NEB: This assay detects the exon 55 deletion found in Ashkenazi Jewish individuals in association with nemaline myopathy. Exons 82-105 contain a large triplicated region. Deletion/duplication analysis excludes this region. Sequence changes in this region can be detected, but this assay cannot determine which of the three repeat units is affected (and zygosity is often ambiguous). All variants in this region are reported relative to the exon 82-89 repeat.
RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.
SDHA: Analysis is limited to sequencing analysis. No clinically-relevant del/dups have been reported.
SEPN1: Analysis includes the NM_20451.2:c.*1107T>C variant in the 3' UTR.
TTN: Deletion/duplication and sequencing analysis is not offered for exons 153-155 (NM_133378.4). Variants are named relative to the NM_001267550.2 (meta) transcript, but only variants in the coding sequence and intronic boundaries of the clinically relevant NM_133378.4 (N2A) isoform are reported (PMID: 25589632).