• Test code: 03362
  • 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

Invitae Congenital Myopathy Panel

Test description

The Invitae Congenital Myopathy Panel analyzes genes associated with congenital myopathies, a heterogeneous group of neuromuscular conditions with widely variable symptom severity. These genes were curated based on currently available evidence to provide a comprehensive test for the genetic causes of congenital myopathies. 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, help predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.

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Primary panel (36 genes)


Add-on Preliminary-evidence Gene for Congenital Myopathy (1 gene)

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.


Broad disorder tested:

  • Congenital Myopathy

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)

  • 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), CAP myopathy 2 (CAPM2), 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)
  • Other Congenital Myopathies
  • Bethlem myopathy 1 (BTHLM1), Ullrich congenital muscular dystrophy 1 (UCMD1)
  • Bethlem myopathy 2 (BTHLM2), Ullrich congenital muscular dystrophy 2 (UCMD2)
  • CACNA1S-related congenital myopathy
  • central core disease (CCD), congenital myopathy with fiber-type disproportion (CFTD), multiminicore disease (MmD), centronuclear myopathy (CNM)
  • Compton-North congenital myopathy (MYPCN)
  • 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)
  • HACD1-related congenital myopathy
  • hereditary myopathy with early respiratory failure (HMERF)
  • Klippel-Feil syndrome with myopathy and facial dysmorphism
  • mitochondrial DNA depletion syndrome 2 (MTDPS2)
  • myofibrillar myopathy 8 (MFM8)
  • myopathy with extrapyramidal signs
  • myosin storage myopathy (MSMA), scapuloperoneal myopathy (SPMM), Laing distal myopathy (MPD1), congenital myopathy with fiber-type disproportion (CFTD)
  • rigid spine muscular dystrophy 1 (RSMD1), congenital myopathy with fiber-type disproportion (CFTD)
  • STAC3-related congenital myopathy

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

Congenital muscular myopathies 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
BIN1 NM_139343.2
CACNA1S NM_000069.2
CCDC78 NM_001031737.2
CFL2 NM_021914.7
CNTN1 NM_001843.3
COL12A1 NM_004370.5
COL6A1 NM_001848.2
COL6A2 NM_001849.3
COL6A3 NM_004369.3
DNM2 NM_001005360.2
FKBP14 NM_017946.3
HACD1 NM_014241.3
KBTBD13 NM_001101362.2
KLHL40 NM_152393.3
KLHL41 NM_006063.2
LMOD3 NM_198271.4
MAP3K20 NM_016653.2
MEGF10 NM_032446.2
MICU1 NM_006077.3
MTM1 NM_000252.2
MTMR14 NM_022485.4
MYH7 NM_000257.3
MYL2 NM_000432.3
MYO18B NM_032608.6
MYPN NM_032578.3
NEB* NM_001271208.1
PYROXD1 NM_024854.3
RYR1 NM_000540.2
SELENON* NM_020451.2
SPEG NM_005876.4
STAC3 NM_145064.2
TK2 NM_004614.4
TNNT1 NM_003283.5
TPM2 NM_003289.3
TPM3* NM_152263.3
TTN* NM_001267550.2

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.
SELENON: Analysis includes the NM_20451.2:c.*1107T>C variant in the 3' UTR.
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).