Invitae Comprehensive Neuromuscular Disorders Panel

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  • Test code: 03280
  • 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

The Invitae Comprehensive Neuromuscular Disorders Panel analyzes up to 121 genes that are associated with inherited neuromuscular disorders, including muscular dystrophies, myopathies, and congenital myasthenic syndromes. Neuromuscular disorders (NMD) are genetically and clinically heterogeneous. Age of onset, symptom severity, and histopathological findings are variable between different forms of NMD. The genes in this panel were curated based on current available evidence to provide a comprehensive test for the genetic causes of inherited muscular dystrophy, myopathy, and congenital myasthenic syndromes.

Given the clinical overlap between different types of muscular dystrophy, myopathies and congenital myasthenic syndromes, comprehensive testing allows for a more efficient evaluation for several conditions based on a single indication for testing. Identification of the molecular basis of disease can be useful in confirming a diagnosis, predicting disease course, and informing recurrence risk. In some cases, molecular diagnosis may guide enrollment in clinical trials.

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Primary panel (104 genes)

ACTA1 AGRN ALG2 ANO5 ATP2A1 B3GALNT2 B4GAT1 BAG3 BIN1 CACNA1S CAPN3 CAV3 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN1 CNTN1 COL6A1 COL6A2 COL6A3 COLQ CPT2 CRYAB DAG1 DES DMD DNAJB6 DNM2 DOK7 DPAGT1 DPM1 DPM2 DPM3 DYSF EMD FHL1 FKBP14 FKRP FKTN FLNC GAA GFPT1 GMPPB GNE ISPD ITGA7 KBTBD13 KCNJ2 KLHL40 KLHL41 LAMA2 LAMP2 LARGE1 LDB3 LMNA LMOD3 MATR3 MEGF10 MTM1 MUSK MYH2 MYH7 MYL2 MYOT MYPN NEB PLEC PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 RAPSN RYR1 SCN4A SELENON SGCA SGCB SGCD SGCG SMN1, SMN2 SQSTM1 STAC3 STIM1 TAZ TCAP TIA1 TMEM5 TNNT1 TNPO3 TPM2 TPM3 TRAPPC11 TRIM32 TTN VCP VMA21

CHRNE: Analysis includes the intronic variants NM_000080.3:c.-96C>T, NM_000080.3:c.-95G>A, and NM_000080.3:c.-94G>A.
DMD: Analysis guarantees del/dup detection at single-exon resolution.
DOK7: Analysis includes the intronic variant NM_001301071.1:c.54+14_+28delGGGGGGGGGGGGCGC.
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.
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.
RAPSN: Analysis includes the promoter variants NM_005055.3:c.-210A>G and NM_005055.3:c.-199C>G.
RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.
SELENON: Analysis includes the NM_20451.2:c.*1107T>C variant in the 3' UTR.
SMN1, SMN2: The SMN1 gene is identical to the SMN2 gene with the exception of exon 8 (typically referred to as exon 7). This assay unambiguously detects SMN1 exon 8 copy number and sequence variants. Sequence variants outside of exon 8 will also be detected, but this assay cannot determine whether the variant is located in SMN1 or SMN2. SMN2 exon 8 copy number will be reported for individuals with a positive result in SMN1. CNVs in exons 1-7 of SMN1 or SMN2 (typically referred to as exons 1-6 in the literature) will not be reported. This assay cannot detect silent carriers (individuals that have 2 functional copies of SMN1 on one chromosome and zero copies on the other). Therefore a negative result for carrier testing greatly reduces but does not eliminate the chance that a person is a carrier.
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 for Neuromuscular Disorders (16 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.

ALG14 COL12A1 HNRNPA2B1 HNRNPDL LAMB2 LIMS2 LRP4 MYF6 PREPL SNAP25 SUN1 SUN2 SYNE1 SYNE2 TMEM43 TOR1AIP1

Add-on Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2) Gene (1 gene)

Pathogenic variants in SMCHD1 account for approximately 5% of facioscapulohumeral muscular dystrophy. SMCHD1 variants should be interpreted in the context of D4Z4 hypomethylation and a permissive 4qA haplotype, which is not part of this assay. Depending on the clinical presentation of the individual and within the context of additional laboratory results, clinicians may wish to broaden analysis by including this gene, which can be added at no additional charge.

SMCHD1

Muscular dystrophies are characterized by skeletal muscle dysfunction that leads to muscle weakness and wasting of varying severity. In specific forms, other muscles—including respiratory muscles, cardiac smooth muscles, and swallowing muscles—can also be affected. In rare variants, the disorder is associated with involvement of other organs or tissues, such as the brain, inner ear, eyes, or skin.

Inherited myopathies are a heterogeneous group of neuromuscular disorders, which are characterized by skeletal muscle dysfunction leading to muscle weakness of varying severity. Certain subtypes of myopathy are also commonly associated with cardiac disease. Other symptoms associated with myopathies may include muscle cramps, stiffness, and/or spasms, joint contractures, and respiratory insufficiency.

Congenital myasthenic syndromes are a heterogeneous group of inherited neuromuscular junction (NMJ) disorders that typically manifest between the neonatal period and early childhood. The most common presentation consists of fatigable weakness of the skeletal muscles, respiratory issues including apnea and choking spells, feeding difficulty, and eyelid ptosis. Other features, such as congenital arthrogryposis multiplex and respiratory insufficiency, may also occur.

GeneInheritanceAssociated neuromuscular disorders and subtypes
Autosomal dominantAutosomal recessiveX-linked
ACTA1 nemaline myopathy-3, congenital fiber-type disproportion
AGRN CMS8 with pre- and postsynaptic defects
ALG14* CMS15 without tubular aggregates
ALG2 CMS14 with tubular aggregates, congenital disorder of glycosylation type Ii (CDG-Ii)
ANO5 LGMD2L, Miyoshi muscular dystrophy-3
ATP2A1 Brody myopathy
B3GALNT2 MDDGA11
B4GAT1 MDDGA13
BAG3 myofibrillar myopathy-6
BIN1 centronuclear myopathy-2
CACNA1S hypokalemic periodic paralysis, type 1
CAPN3 LGMD2A
CAV3 LGMD1C, hypertrophic cardiomyopathy, hyperCKemia, distal myopathy
CCDC78 centronuclear myopathy-4
CFL2 nemaline myopathy-7
CHAT presynaptic CMS6
CHKB congenital muscular dystrophy, megaconial type
CHRNA1 slow-channel CMS1A, fast-channel CMS1B, fetal akinesia deformation sequence
CHRNB1 slow-channel CMS2A, CMS2C with acetylcholine receptor deficiency
CHRND slow-channel CMS3A, fast-channel CMS3B, CMS3C with acetylcholine receptor deficiency, fetal akinesia deformation sequence
CHRNE slow-channel CMS4A, fast-channel CMS4B, CMS4C with acetylcholine receptor deficiency
CLCN1 myotonia congenita
CNTN1 Compton-North congenital myopathy
COL12A1* Bethlem myopathy-2, Ullrich congenital muscular dystrophy-2
COL6A1 Bethlem myopathy-1, Ullrich congenital muscular dystrophy-1
COL6A2 Bethlem myopathy-1, Ullrich congenital muscular dystrophy-1
COL6A3 Bethlem myopathy-1, Ullrich congenital muscular dystrophy-1
COLQ CMS5 with endplate acetylcholinesterase deficiency
CPT2 carnitine palmitoyltransferase II (CPT II) deficiency
CRYAB myofibrillar myopathy-2, CRYAB-associated fatal infantile hypertonic myofibrillar myopathy
DAG1 MDDGA9, MDDGC9 (LGMD2P)
DES LGMD2R, myofibrillar myopathy-1, dilated cardiomyopathy
DMD Becker muscular dystrophy, Duchenne muscular dystrophy
DNAJB6 LGMD1E, distal myopathy
DNM2 centronuclear myopathy
DOK7 limb-girdle CMS10, fetal akinesia deformation sequence
DPAGT1 CMS13 with tubular aggregates, congenital disorder of glycosylation type Ij (CDG-Ij)
DPM1 CDG1E
DPM2 CDG1U
DPM3 CDG1O
DYSF LGMD2B, Miyoshi muscular dystrophy-1
EMD EDMD1
FHL1 EDMD6
FKBP14 Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
FKRP MDDGA5, MDDGB5, MDDGC5 (LGMD2I), dilated cardiomyopathy
FKTN MDDGA4, MDDGB4, MDDGC4 (LGMD2M), dilated cardiomyopathy
FLNC distal myopathy-4, myofibrillar myopathy-5
GAA glycogen storage disease-2 (Pompe disease)
GFPT1 CMS12 with tubular aggregates
GMPPB MDDGA14, MDDGB14, MDDGC14 (LGMD2T)
GNE GNE-related myopathy
HNRNPA2B1* inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD2)
HNRNPDL* LGMD1G
ISPD MDDGA7, MDDGC7 (LGMD2U)
ITGA7 congenital muscular dystrophy due to integrin alpha-7 deficiency
KBTBD13 nemaline myopathy-6
KCNJ2 Andersen-Tawil syndrome
KLHL40 nemaline myopathy-8
KLHL41 nemaline myopathy-9
LAMA2 laminin alpha 2-deficient congenital muscular dystrophy/merosin-deficient congenital muscular dystrophy type 1A
LAMB2* nephrotic syndrome, type 5, with or without ocular abnormalities
LAMP2 Danon disease
LARGE1 (formerly known as LARGE) MDDGA6, MDDGB6
LDB3 myofibrillar myopathy-4
LIMS2* LGMD2W
LMNA Emery-Dreifuss muscular dystrophy, LGMD1B, congenital muscular dystrophy, dilated cardiomyopathy
LMOD3 nemaline myopathy-10
LRP4* CMS17
MATR3 distal myopathy-2
MEGF10 early-onset myopathy with minicores, areflexia, respiratory distress, and dysphagia
MTM1 X-linked centronuclear myopathy
MUSK CMS9 with acetylcholine receptor deficiency, fetal akinesia deformation sequence
MYF6* centronuclear myopathy-3
MYH2 proximal myopathy and ophtalmoplegia (inclusion body myopathy 3, IBM3, MYPOP)
MYH7 Laing distal myopathy, myosin storage myopathy, congenital fiber-type disproportion
MYL2 light-chain myopathy
MYOT LGMD1A, myofibrillar myopathy-3
MYPN nemaline myopathy
NEB nemaline myopathy-2
PLEC epidermolysis bullosa simplex (EBS), limb-girdle muscular dystrophy type 2Q (LGMD2Q), EBS with CMS
PNPLA2 neutral lipid storage disease with myopathy (NLSDM)
POMGNT1 MDDGA3, MDDGB3, MDDGC3 (LGMD2O)
POMGNT2 MDDGA8
POMK MDDGA12, MDDGC12
POMT1 MDDGA1, MDDGB1, MDDGC1 (LGMD2K)
POMT2 MDDGA2, MDDGB2, MDDGC2 (LGMD2N)
PREPL* CMS
RAPSN CMS11 with acetylcholine receptor deficiency, fetal akinesia deformation sequence
RYR1 central core disease, centronuclear myopathy, congenital fiber-type disproportion, multiminicore disease
SCN4A* CMS16, hyper- and hypokalemic periodic paralysis, paramyotonia congenita
SELENON (formerly known as SEPN1) multiminicore disease
SGCA LGMD2D
SGCB LGMD2E
SGCD LGMD2F, dilated cardiomyopathy
SGCG LGMD2C
SMCHD1 FSHD2 (digenic inheritance with D4Z4 hypomethylation and 4qA allele)
SMN1 spinal muscular atrophy
SMN2 modifier of SMN1
SNAP25* CMS18 with intellectual disability and ataxia
SQSTM1 Paget disease of the bone, distal myopathy
STAC3 Native American myopathy
STIM1 tubular aggregate myopathy, Stormoken syndrome
SUN1* Emery-Dreifuss muscular dystrophy
SUN2* Emery-Dreifuss muscular dystrophy
SYNE1* EDMD4
SYNE2* EDMD5
TAZ Barth syndrome
TCAP LGMD2G, dilated cardiomyopathy, hypertrophic cardiomyopathy
TIA1 Welander distal myopathy
TMEM43* EDMD7
TMEM5 MDDGA10
TNNT1 nemaline myopathy-4
TNPO3 LGMD1F
TOR1AIP1* limb-girdle muscular dystrophy
TPM2 congenital fiber-type disproportion, nemaline myopathy
TPM3 congenital fiber-type disproportion, nemaline myopathy-1
TRAPPC11 LGMD2S
TRIM32 LGMD2H, sarcotubular myopathy
TTN LGMD2J, tibial muscular dystrophy, Centronuclear myopathy
VCP inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD1)
VMA21 X-linked myopathy with excessive autophagy (XMEA)

*Preliminary-evidence gene

The clinical sensitivity of this test is dependent on the individual’s underlying genetic condition. Please see test specific pages for Invitae Type VI Collagenopathy, Invitae Emery-Dreifuss Muscular Dystrophy, Invitae Limb-Girdle Muscular Dystrophy, Invitae Dystroglycanopathy, Invitae Congenital Muscular Dystrophy, Invitae Comprehensive Myopathy Panel and Invitae Congenital Myasthenic Syndrome Panel for disease-specific clinical sensitivity information. This panel also includes other genes that have been identified as causes of NMD, although the exact contribution of these genes to the overall detection rate is not known and again, may be dependent on the clinical presentation of the patient. Testing of all currently known causative NMD genes does not result in identification of a genetic cause in 100% of affected individuals.

NMD can be associated with different inheritance patterns, including autosomal dominant, autosomal recessive, and X-linked. Some genes are associated with both autosomal dominant and autosomal recessive NMD. FSHD2 is associated with digenic inheritance.

For most forms of muscular dystrophies, myopathies and congenital myasthenic syndromes, penetrance is thought to be high. Incomplete penetrance has been observed for some forms of myopathy, including congenital fiber-type disproportion, nemaline myopathy, myofibrillar myopathy, and distal myopathy. FSHD2 has been reported to exhibit incomplete penetrance in 20% of individuals with a SMCHD1 mutation, hypomethylation of D4Z4 and a permissive 4qA haplotype. In addition, incomplete penetrance has been reported for some autosomal dominant forms of CMS, including slow-channel congenital myasthenic syndrome. In general, depending on the causative gene, the age of symptom onset can be variable, ranging from childhood to late adulthood and making determination of penetrance difficult. On its own, deletion of SMN1 has high penetrance. Unaffected individuals with five copies of SMN2 and a homozygous deletion in SMN1 have been reported, suggesting that five copies of SMN2 may compensate for the lack of SMN1 expression (PMID:15378550). Some forms of NMD are rare, and their penetrance is not known.

As a group, the combined NMD prevalence is greater than 1 in 3,000 (PMID:19767415). The incidence of all forms of congenital muscular dystrophies has been estimated at 1:21,500. The prevalence of congenital forms of myopathy in the United States is estimated to be 1 in 26,000. The prevalence of genetically confirmed CMS is estimated at 9.2 cases per 1 million children under 18 years of age (PMID: 24500997).

The clinical spectrum of NMD is variable. Genetic testing may confirm a suspected diagnosis or rule out other disorders with similar symptoms. A genetic diagnosis may also help predict disease progression and inform recurrence risk.

  1. Abicht, A, et al. Congenital Myasthenic Syndromes. 2003 May 09. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301347
  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. Beeson, D, et al. 126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul. Disord. 2005; 15(7):498-512. PMID: 15951177
  5. Bönnemann, CG, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul. Disord. 2014; 24(4):289-311. PMID: 24581957
  6. Chaouch, A, et al. A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. J. Neurol. 2012; 259(3):474-81. PMID: 21822932
  7. Colombo, I, et al. Congenital myopathies: Natural history of a large pediatric cohort. Neurology. 2015; 84(1):28-35. PMID: 25428687
  8. 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
  9. 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
  10. Dimachkie, MM, Barohn, RJ. Distal myopathies. Neurol Clin. 2014; 32(3):817-42, x. PMID: 25037092
  11. Engel, AG, Sine, SM. Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol. 2005; 5(3):308-21. PMID: 15907919
  12. Eymard, B, et al. Congenital myasthenic syndromes. Handb Clin Neurol. 2013; 113:1469-80. PMID: 23622369
  13. Finlayson, S, et al. Congenital myasthenic syndromes: an update. Pract Neurol. 2013; 13(2):80-91. PMID: 23468559
  14. Gorokhova, S, et al. Clinical massively parallel sequencing for the diagnosis of myopathies. Rev. Neurol. (Paris). 2015; 171(6-7):558-71. PMID: 26022190
  15. 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
  16. 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
  17. Lemmers, RJ, et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat. Genet. 2012; 44(12):1370-4. PMID: 23143600
  18. M, King, W, Kissel, JT. Multidisciplinary approach to the management of myopathies. Continuum (Minneap Minn). 2013; 19(6 Muscle Disease):1650-73. PMID: 24305452
  19. 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
  20. 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
  21. Malicdan, MCV, Nishino, I. Central Core Disease. 2007 May 16. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301565
  22. Mercuri, E, Muntoni, F. Muscular dystrophies. Lancet. 2013; 381(9869):845-60. PMID: 23465426
  23. North, KN, Ryan, MM. Nemaline Myopathy. 2002 Jun 19. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301465
  24. Parr, JR, et al. How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia. Arch. Dis. Child. 2014; 99(6):539-42. PMID: 24500997
  25. Prior, TW, Russman, BS. Spinal Muscular Atrophy. 2000 Feb 24. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301526
  26. Robb, SA, et al. Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK. Neuromuscul. Disord. 2010; 20(12):833-8. PMID: 20850318
  27. 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
  28. 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
ACTA1 NM_001100.3
AGRN NM_198576.3
ALG14 NM_144988.3
ALG2 NM_033087.3
ANO5 NM_213599.2
ATP2A1 NM_173201.3
B3GALNT2 NM_152490.4
B4GAT1 NM_006876.2
BAG3 NM_004281.3
BIN1 NM_139343.2
CACNA1S NM_000069.2
CAPN3 NM_000070.2
CAV3 NM_033337.2
CCDC78 NM_001031737.2
CFL2 NM_021914.7
CHAT NM_020549.4
CHKB NM_005198.4
CHRNA1 NM_000079.3
CHRNB1 NM_000747.2
CHRND NM_000751.2
CHRNE* NM_000080.3
CLCN1 NM_000083.2
CNTN1 NM_001843.3
COL12A1 NM_004370.5
COL6A1 NM_001848.2
COL6A2 NM_001849.3
COL6A3 NM_004369.3
COLQ NM_005677.3
CPT2 NM_000098.2
CRYAB NM_001885.2
DAG1 NM_004393.5
DES NM_001927.3
DMD* NM_004006.2
DNAJB6 NM_058246.3
DNM2 NM_001005360.2
DOK7* NM_173660.4
DPAGT1 NM_001382.3
DPM1 NM_003859.1
DPM2 NM_003863.3
DPM3 NM_153741.1
DYSF NM_003494.3
EMD NM_000117.2
FHL1 NM_001449.4, NM_001159702.2
FKBP14 NM_017946.3
FKRP NM_024301.4
FKTN* NM_001079802.1
FLNC NM_001458.4
GAA* NM_000152.3
GFPT1 NM_002056.3
GMPPB NM_021971.2
GNE NM_001128227.2
HNRNPA2B1 NM_031243.2
HNRNPDL NM_031372.3
ISPD NM_001101426.3
ITGA7 NM_002206.2
KBTBD13 NM_001101362.2
KCNJ2 NM_000891.2
KLHL40 NM_152393.3
KLHL41 NM_006063.2
LAMA2 NM_000426.3
LAMB2 NM_002292.3
LAMP2 NM_002294.2, NM_013995.2
LARGE1 NM_004737.4
LDB3 NM_001080116.1, NM_001171610.1
LIMS2 NM_017980.4
LMNA NM_170707.3
LMOD3 NM_198271.4
LRP4 NM_002334.3
MATR3 NM_199189.2
MEGF10 NM_032446.2
MTM1 NM_000252.2
MUSK NM_005592.3
MYF6 NM_002469.2
MYH2 NM_017534.5
MYH7 NM_000257.3
MYL2 NM_000432.3
MYOT NM_006790.2
MYPN NM_032578.3
NEB* NM_001271208.1
PLEC NM_000445.4
PNPLA2 NM_020376.3
POMGNT1 NM_017739.3
POMGNT2 NM_032806.5
POMK NM_032237.4
POMT1 NM_007171.3
POMT2 NM_013382.5
PREPL NM_006036.4
RAPSN* NM_005055.4
RYR1* NM_000540.2
SCN4A NM_000334.4
SELENON* NM_020451.2
SGCA NM_000023.2
SGCB NM_000232.4
SGCD NM_000337.5
SGCG NM_000231.2
SMCHD1 NM_015295.2
SMN1, SMN2* SMN1: NM_000344.3, SMN2: NM_017411.3
SNAP25 NM_130811.2
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
TIA1 NM_022173.2
TMEM43 NM_024334.2
TMEM5 NM_014254.2
TNNT1 NM_003283.5
TNPO3 NM_012470.3
TOR1AIP1 NM_001267578.1
TPM2 NM_003289.3
TPM3 NM_152263.3
TRAPPC11 NM_021942.5
TRIM32 NM_012210.3
TTN* NM_001267550.2
VCP NM_007126.3
VMA21 NM_001017980.3

CHRNE: Analysis includes the intronic variants NM_000080.3:c.-96C>T, NM_000080.3:c.-95G>A, and NM_000080.3:c.-94G>A.
DMD: Analysis guarantees del/dup detection at single-exon resolution.
DOK7: Analysis includes the intronic variant NM_001301071.1:c.54+14_+28delGGGGGGGGGGGGCGC.
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.
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.
RAPSN: Analysis includes the promoter variants NM_005055.3:c.-210A>G and NM_005055.3:c.-199C>G.
RYR1: Deletion/duplication analysis is not offered for exons 48 or 49.
SELENON: Analysis includes the NM_20451.2:c.*1107T>C variant in the 3' UTR.
SMN1, SMN2: The SMN1 gene is identical to the SMN2 gene with the exception of exon 8 (typically referred to as exon 7). This assay unambiguously detects SMN1 exon 8 copy number and sequence variants. Sequence variants outside of exon 8 will also be detected, but this assay cannot determine whether the variant is located in SMN1 or SMN2. SMN2 exon 8 copy number will be reported for individuals with a positive result in SMN1. CNVs in exons 1-7 of SMN1 or SMN2 (typically referred to as exons 1-6 in the literature) will not be reported. This assay cannot detect silent carriers (individuals that have 2 functional copies of SMN1 on one chromosome and zero copies on the other). Therefore a negative result for carrier testing greatly reduces but does not eliminate the chance that a person is a carrier.
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).