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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 EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
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Invitae Comprehensive Neuromuscular Disorders Panel

Test description

The Invitae Comprehensive Neuromuscular Disorders Panel analyzes genes that are associated with hereditary neuromuscular conditions, including but not limited to muscular dystrophies, inherited myopathies, and congenital myasthenic syndromes. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. These genes were curated based on the available evidence to date in order to provide analysis for neuromuscular disorders. Given the clinical overlap of hereditary neuromuscular disorders, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.

This assay does not currently test for facioscapulohumeral muscular dystrophy type 1 (FSHD1), oculopharyngeal muscular dystrophy (OPMD), or myotonic dystrophy types 1 and 2. Additional testing for these conditions should be considered, if not yet performed and clinically appropriate.

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Primary panel (131 genes)

ACTA1 ADSSL1 AGRN ALG14 ALG2 AMPD1 ANO5 ATP2A1 B3GALNT2 B4GAT1 BAG3 BIN1 CACNA1S CAPN3 CASQ1 CAV3 CCDC78 CFL2 CHAT CHKB CHRNA1 CHRNB1 CHRND CHRNE CLCN1 CNTN1 COL12A1 COL13A1 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 GOSR2 GYG1 GYS1 HACD1 HNRNPA2B1 HNRNPDL ISCU ISPD ITGA7 KBTBD13 KCNJ2 KLHL40 KLHL41 LAMA2 LAMP2 LARGE1 LDB3 LMNA LMOD3 MAP3K20 MATR3 MEGF10 MICU1 MTM1 MUSK MYH2 MYH7 MYL2 MYO18B MYOT MYPN NEB ORAI1 PLEC PNPLA2 POMGNT1 POMGNT2 POMK POMT1 POMT2 PREPL PYROXD1 RAPSN RXYLT1 RYR1 SCN4A SELENON SGCA SGCB SGCD SGCG SLC18A3 SLC5A7 SMCHD1 SMN1, SMN2 SPEG SQSTM1 STAC3 STIM1 SYT2 TAZ TCAP TIA1 TK2 TNNT1 TNPO3 TOR1AIP1 TPM2 TPM3 TRAPPC11 TRIM32 TTN VAMP1 VCP VMA21

Add-on Preliminary-evidence Genes for Neuromuscular Disorders (12 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.

KLHL9 LAMB2 LIMS2 LRP4 MTMR14 SNAP25 SUN1 SUN2 SYNE1 SYNE2 TMEM43 TNNT3

Broad disorders tested:

  • Central Core Disease
  • Centronuclear Myopathy
  • Congenital Fiber Type Disproportion
  • Congenital Muscular Dystrophy
  • Congenital Myasthenic Syndrome
  • Congenital Myopathy
  • Dystroglycanopathies
  • Dystrophinopathies
  • Emery-Dreifuss Muscular Dystrophy
  • Limb-Girdle Muscular Dystrophy
  • Multiminicore Disease
  • Myofibrillar Myopathy
  • Myotonia and Paramyotonia Congenita
  • Nemaline Myopathy
  • Type VI Collagenopathies

Individual disorders tested:

  • Centronuclear Myopathy (CNM) Subtypes
  • centronuclear myopathy 2 (CNM2)
  • centronuclear myopathy 4 (CNM4)
  • centronuclear myopathy 5 (CNM5)
  • centronuclear myopathy 6 (CNM6)
  • DNM2-associated centronuclear myopathy (DNM2-CNM)
  • TTN-related centronuclear myopathy
  • X-linked centronuclear myopathy (XLCNM)

  • Congenital Myasthenic Syndrome (CMS) Subtypes
  • CHRNA1-associated congenital myasthenic syndrome,
    fetal akinesia deformation sequence (FADS)
  • CHRNB1-associated congenital myasthenic syndrome
  • CHRND-associated congenital myasthenic syndrome, lethal
    multiple pterygium syndrome (LMPS)
  • CHRNE-associated congenital myasthenic syndrome
  • Congenital myasthenic syndrome 5 (CMS5)
  • Congenital myasthenic syndrome 6 (CMS6)
  • Congenital myasthenic syndrome 7 (CMS7)
  • Congenital myasthenic syndrome 8 (CMS8)
  • Congenital myasthenic syndrome 9 (CMS9), fetal akinesia
    deformation sequence 1 (FADS1)
  • Congenital myasthenic syndrome 10 (CMS10), fetal akinesia
    deformation sequence 3 (FADS3)
  • Congenital myasthenic syndrome 11 (CMS11), fetal akinesia
    deformation sequence 2 (FADS2)
  • Congenital myasthenic syndrome 12 (CMS12)
  • Congenital myasthenic syndrome 13 (CMS13)
  • Congenital myasthenic syndrome 14 (CMS14)
  • Congenital myasthenic syndrome 15 (CMS15)
  • Congenital myasthenic syndrome 19 (CMS19)
  • Congenital myasthenic syndrome 20 (CMS20)
  • Congenital myasthenic syndrome 21 (CMS21)
  • Congenital myasthenic syndrome 22 (CMS22)
  • Congenital myasthenic syndrome 25 (CMS25)
  • GMPPB-related congenital myasthenic syndrome
  • Dystroglycanopathies
  • muscular dystrophy-dystroglycanopathy type A1 (MDDGA1),
    type B1 (MDDGB1), type C1 (MDDGC1)
  • muscular dystrophy-dystroglycanopathy type A10 (MDDGA10)
  • muscular dystrophy-dystroglycanopathy type A11 (MDDGA11)
  • muscular dystrophy-dystroglycanopathy type A12 (MDDGA12),
    type C12 (MDDGC12)
  • muscular dystrophy-dystroglycanopathy type A13 (MDDGA13)
  • muscular dystrophy-dystroglycanopathy type A14 (MDDGA14),
    type B14 (MDDGB14), type C14 (MDDGC14)
  • muscular dystrophy-dystroglycanopathy type A2 (MDDGA2),
    type B2 (MDDGB2), type C2 (MDDGC2)
  • muscular dystrophy-dystroglycanopathy type A3 (MDDGA3),
    type B3 (MDDGB3), type C3 (MDDGC3)
  • muscular dystrophy-dystroglycanopathy type A4 (MDDGA4),
    Fukuyama congenital muscular dystrophy (FCMD), type B4
    (MDDGB4), type C4 (MDDGC4)
  • muscular dystrophy-dystroglycanopathy type A5 (MDDGA5),
    type B5 (MDDGB5), type C5 (MDDGC5)
  • muscular dystrophy-dystroglycanopathy type A6 (MDDGA6),
    type B6 (MDDGB6)
  • muscular dystrophy-dystroglycanopathy type A7 (MDDGA7),
    type C7 (MDDGC7)
  • muscular dystrophy-dystroglycanopathy type A8 (MDDGA8,
    type C8 (MDDGC8)
  • muscular dystrophy-dystroglycanopathy type A9 (MDDGA9)
  • Dystrophinopathies
  • Duchenne Muscular Dystrophy (DMD), Becker Muscular
    Dystrophy (BMD)
  • Emery-Dreifuss Muscular Dystrophy (EDMD) Subtypes
  • Emery-Dreifuss muscular dystrophy type 1 (EDMD1)
  • Emery-Dreifuss muscular dystrophy type 2 (EDMD2), type 3
    (EDMD3), laminopathies
  • Emery-Dreifuss muscular dystrophy type 6 (EDMD6)
  • Limb-Girdle Muscular Dystrophy (LGMD) Subtypes
  • limb-girdle muscular dystrophy type 1A (LGMD1A)
  • limb-girdle muscular dystrophy type 1C (LGMD1C)
  • limb-girdle muscular dystrophy type 1E (LGMD1E), type 1D
    (LGMD1D)
  • limb-girdle muscular dystrophy type 1F (LGMD1F)
  • limb-girdle muscular dystrophy type 1G (LGMDD3)
  • limb-girdle muscular dystrophy type 2A (LGMD2A), type 4
    (LGMDD4)
  • limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi
    muscular dystrophy type 1 (MMD1), dysferlinopathies
  • limb-girdle muscular dystrophy type 2C (LGMD2C)
  • limb-girdle muscular dystrophy type 2D (LGMD2D)
  • limb-girdle muscular dystrophy type 2E (LGMD2E)
  • limb-girdle muscular dystrophy type 2F (LGMD2F)
  • limb-girdle muscular dystrophy type 2G (LGMD2G)
  • limb-girdle muscular dystrophy type 2H (LGMD2H)
  • limb-girdle muscular dystrophy type 2J (LGMD2J), tibial
    muscular dystrophy (TMD)
  • limb-girdle muscular dystrophy type 2L (LGMD2L), Miyoshi
    muscular dystrophy type 3 (MMD3)
  • limb-girdle muscular dystrophy type 2Q (LGMD2Q)
  • limb-girdle muscular dystrophy type 2R (LGMD2R)
  • limb-girdle muscular dystrophy type 2S (LGMD2S)
  • limb-girdle muscular dystrophy type 2Y (LGMD2Y)
  • Myofibrillar Myopathy (MFM) Subtypes
  • myofibrillar myopathy 1 (MFM1)
  • myofibrillar myopathy 2 (MFM2)
  • myofibrillar myopathy 3 (MFM3)
  • myofibrillar myopathy 4 (MFM4)
  • myofibrillar myopathy 5 (MFM5)
  • myofibrillar myopathy 6 (MFM6)
  • myofibrillar myopathy 8 (MFM8)
  • Nemaline Myopathy (NEM) Subtypes
  • nemaline myopathy 1 (NEM1), congenital myopathy with
    fiber-type disproportion (CFTD)
  • nemaline myopathy 2 (NEM2)
  • nemaline myopathy 3 (NEM3), congenital myopathy with
    fiber-type disproportion (CFTD)
  • nemaline myopathy 4 (NEM4), congenital myopathy with
    fiber-type disproportion (CFTD)
  • nemaline myopathy 5 (NEM5)
  • nemaline myopathy 6 (NEM6)
  • nemaline myopathy 7 (NEM7)
  • nemaline myopathy 8 (NEM8)
  • nemaline myopathy 9 (NEM9)
  • nemaline myopathy 10 (NEM10)
  • nemaline myopathy 11 (NEM11)
  • Type VI Collagenopathies
  • Bethlem myopathy 1 (BTHLM1), Ullrich congenital muscular
    dystrophy 1 (UCMD1)
  • Bethlem myopathy 2 (BTHLM2), Ullrich congenital muscular
    dystrophy 2 (UCMD2)
  • Other Disorders
  • ALG14-congenital disorder of glycosylation (ALG14-CDG)
  • Andersen-Tawil syndrome/long QT syndrome (LQTS), type 7
  • Barth Syndrome (BTHS), 3-methylglutaconic aciduria type II
  • Brody myopathy
  • CACNA1S-related congenital myopathy
  • carnitine palmitoyltransferase II (CPTII or CPT2) deficiency
  • CAV3-related distal myopathy, caveolinopathies
  • central core disease (CCD), congenital myopathy with fiber-
    type disproportion (CFTD), multiminicore disease (MmD),
    centronuclear myopathy (CNM)
  • Compton-North congenital myopathy (MYPCN)
  • congenital muscular dystrophy due to integrin alpha-7
    deficiency
  • congenital muscular dystrophy, megaconial type (MDCMC)
  • Danon disease
  • distal myopathy 2 (MPD2)
  • distal myopathy 4 (MPD4)
  • distal myopathy 5 (MPD5)
  • distal myopathy with anterior tibial onset (DMAT)
  • DNAJB6-related distal myopathy
  • DPAGT1-congenital disorder of glycosylation (CDG-Ij)
  • DPM1-congenital disorder of glycosylation (CDG-Ie)
  • DPM2-congenital disorder of glycosylation (CDG-Iu)
  • DPM3-congenital disorder of glycosylation (CDG-Io)
  • early-onset MYL2-associated light chain myopathy
  • early-onset myopathy, areflexia, respiratory distress and
    dysphasia (EMARDD)
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis,
    myopathy, and hearing loss (EDSKMH)
  • epidermolysis bullosa simplex with muscular dystrophy
    (EBSMDO), epidermolysis bullosa simplex with pyloric atresia
    (EBSPA), epidermolysis bullosa simplex with myasthenic
    syndrome (EBSMS)
  • facioscapulohumeral muscular dystrophy 2 (FSHD2)
  • glycogen storage disease type II (GSDII), Pompe disease
  • glycogen synthase deficiency, muscle type
    (GSD 0b, muscle form)
  • GOSR2-associated progressive myoclonic epilepsy
  • GNE-related myopathy
  • HACD1-related congenital myopathy
  • hereditary myopathy with early respiratory failure (HMERF)
  • hereditary myopathy with lactic acidosis (HML)
  • inclusion body myopathy type 3 (MYPOP)
  • inclusion body myopathy with early-onset Paget disease and
    frontotemporal dementia 1 (IBMPFD1)
  • inclusion body myopathy with early-onset Paget disease with
    or without frontotemporal dementia 2 (IBMPFD2)
  • Klippel-Feil syndrome with myopathy and facial dysmorphism
  • LAMA2-related muscular dystrophy (LAMA2 MD)
  • mitochondrial DNA depletion syndrome 2 (MTDPS2)
  • multiminicore disease (MmD), congenital myopathy with fiber-
    type disproportion (CFTD)
  • muscle AMP deaminase deficiency (MMDD)
  • myopathy with extrapyramidal signs
  • myosin storage myopathy (MSMA), scapuloperoneal myopathy
    (SPMM), Laing distal myopathy (MPD1), congenital myopathy
    with fiber-type disproportion (CFTD)
  • myotonia congenita
  • neutral lipid storage disease with myopathy (NLSDM)
  • Paget disease of bone (PDB3)
  • paramyotonia congenita, congenital myopathy
  • polyglucosan body myopathy 2 (PGBM2), glycogen storage
    disease XV (GSD XV)
  • reducing body myopathy (RBM), scapuloperoneal myopathy
  • spinal muscular atrophy (SMA)
  • STAC3-related congenital myopathy
  • tubular aggregate myopathy 1 (TAM1), Stormorken (STRMK)
    syndrome
  • tubular aggregate myopathy 2 (TAM2)
  • vacuolar myopathy with CASQ1 aggregates
  • Welander distal myopathy (WDM)
  • X-linked myopathy with excessive autophagy (XMEA)

To view the complete clinical description of this panel, click here.

Neuromuscular disorders can be inherited in an autosomal dominant, autosomal recessive, or X-linked pattern.

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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACTA1 NM_001100.3
ADSSL1 NM_199165.2
AGRN NM_198576.3
ALG14 NM_144988.3
ALG2 NM_033087.3
AMPD1 NM_000036.2
ANO5 NM_213599.2
ATP2A1 NM_173201.3
B3GALNT2 NM_152490.4
B4GAT1 NM_006876.2
BAG3 NM_004281.3
BIN1 NM_139343.2
CACNA1S NM_000069.2
CAPN3* NM_000070.2
CASQ1 NM_001231.4
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
COL13A1 NM_001130103.1
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
FKBP14 NM_017946.3
FKRP NM_024301.4
FKTN* NM_001079802.1
FLNC* NM_001458.4
GAA* NM_000152.3
GFPT1 NM_001244710.1
GMPPB NM_021971.2
GNE NM_001128227.2
GOSR2 NM_004287.3
GYG1 NM_004130.3
GYS1 NM_002103.4
HACD1 NM_014241.3
HNRNPA2B1 NM_031243.2
HNRNPDL NM_031372.3
ISCU NM_213595.3
ISPD NM_001101426.3
ITGA7 NM_002206.2
KBTBD13 NM_001101362.2
KCNJ2 NM_000891.2
KLHL40 NM_152393.3
KLHL41 NM_006063.2
KLHL9 NM_018847.3
LAMA2 NM_000426.3
LAMB2 NM_002292.3
LAMP2 NM_002294.2
LARGE1 NM_004737.4
LDB3 NM_001080116.1; NM_001171610.1,NM_007078.2
LIMS2 NM_001136037.2
LMNA NM_170707.3
LMOD3 NM_198271.4
LRP4 NM_002334.3
MAP3K20 NM_016653.2
MATR3 NM_199189.2
MEGF10 NM_032446.2
MICU1 NM_006077.3
MTM1 NM_000252.2
MTMR14 NM_022485.4
MUSK NM_005592.3
MYH2 NM_017534.5
MYH7 NM_000257.3
MYL2 NM_000432.3
MYO18B NM_032608.6
MYOT NM_006790.2
MYPN NM_032578.3
NEB* NM_001271208.1
ORAI1 NM_032790.3
PLEC NM_000445.4; NM_201378.3
PNPLA2 NM_020376.3
POMGNT1 NM_017739.3
POMGNT2 NM_032806.5
POMK NM_032237.4
POMT1 NM_007171.3
POMT2 NM_013382.5
PREPL NM_006036.4
PYROXD1 NM_024854.3
RAPSN* NM_005055.4
RXYLT1 NM_014254.2
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
SLC18A3 NM_003055.2
SLC5A7 NM_021815.2
SMCHD1 NM_015295.2
SMN1, SMN2* NM_000344.3; NM_017411.3
SNAP25 NM_130811.2
SPEG NM_005876.4
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
SYT2 NM_177402.4
TAZ NM_000116.4
TCAP NM_003673.3
TIA1 NM_022173.2
TK2 NM_004614.4
TMEM43 NM_024334.2
TNNT1 NM_003283.5
TNNT3 NM_006757.3
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
VAMP1 NM_014231.3
VCP NM_007126.3
VMA21 NM_001017980.3

CAPN3: Deletion/duplication analysis is not offered for exon 24.
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 (also known as NM_001079802.1:c.648-1243G>T) and the ~3 kb retrotransposon insertion in the 3' UTR at position NM_001079802‚Äã.1:c.*4392_*4393.
FLNC: Deletion/duplication analysis is not offered for exon 47. Sensitivity and specificity for single nucleotide variants, insertions and deletions in exons 47-48 may be reduced due to the presence of segmental duplications overlapping the region.
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. Deletion/duplication analysis is not offered for exons 82-105. NEB variants in this region with no evidence towards pathogenicity are not included in this report, but are available upon request.
RAPSN: Analysis includes the promoter variants NM_005055.3:c.-210A>G and NM_005055.3:c.-199C>G.
SELENON: Analysis includes the NM_20451.2:c.*1107T>C variant in the 3' UTR.
SMN1 or 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 of exons 1-7 of SMN1 or SMN2 (typically referred to as exons 1-6 in the literature) will not be reported. Variants in all exons with no evidence towards pathogenicity are not reported, but are available upon request. 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. For individuals with 2 copies of SMN1, the residual risk of being a carrier has been reported to be 1 in 121 in African Americans, 1 in 345 in Ashkenazi Jewish individuals, 1 in 628 in Asians, 1 in 632 in Caucasians, and 1 in 1061 in Hispanic individuals (PMID: 23788250). The SMA-STAT test does not detect sequence variants in SMN1 or SMN2, and therefore cannot be used to identify compound heterozygotes.
TPM3: Deletion/duplication analysis is not offered for exon 10.
TTN: Exons 45-46, 147, 149, 158-201, 212-216 (NM_001267550.2) are excluded from analysis. TTN variants are reported in the primary report based on functional effect and/or location. A complete list of variants of uncertain significance, likely benign and benign variants in TTN is available upon request. 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).