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  • Test code: 03292
  • 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 Congenital Muscular Dystrophy Panel

Test description

The Invitae Congenital Muscular Dystrophy Panel analyzes genes associated with congenital muscular dystrophies, 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 muscular dystrophies. 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 (29 genes)

B3GALNT2 B4GAT1 CHKB COL12A1 COL6A1 COL6A2 COL6A3 DAG1 DMD DPM1 DPM2 DPM3 FKRP FKTN GMPPB GOSR2 ISPD ITGA7 LAMA2 LARGE1 LMNA POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 TCAP TK2

Broad disorder tested:

  • Congenital Muscular Dystrophy

Individual disorders tested:

  • 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)
  • 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
  • congenital muscular dystrophy due to integrin alpha-7 deficiency
  • congenital muscular dystrophy, megaconial type (MDCMC)
  • DPM1-congenital disorder of glycosylation (CDG-Ie)
  • DPM2-congenital disorder of glycosylation (CDG-Iu)
  • DPM3-congenital disorder of glycosylation (CDG-Io)
  • GOSR2-associated progressive myoclonic epilepsy
  • LAMA2-related muscular dystrophy (LAMA2 MD)
  • limb-girdle muscular dystrophy type 2G (LGMD2G)
  • LMNA-related muscular dystrophy
  • mitochondrial DNA depletion syndrome 2 (MTDPS2)

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

Congenital muscular dystrophies 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
B3GALNT2 NM_152490.4
B4GAT1 NM_006876.2
CHKB NM_005198.4
COL12A1 NM_004370.5
COL6A1 NM_001848.2
COL6A2 NM_001849.3
COL6A3 NM_004369.3
DAG1 NM_004393.5
DMD* NM_004006.2
DPM1 NM_003859.1
DPM2 NM_003863.3
DPM3 NM_153741.1
FKRP NM_024301.4
FKTN* NM_001079802.1
GMPPB NM_021971.2
GOSR2 NM_004287.3
ISPD NM_001101426.3
ITGA7 NM_002206.2
LAMA2 NM_000426.3
LARGE1 NM_004737.4
LMNA NM_170707.3
POMGNT1 NM_017739.3
POMGNT2 NM_032806.5
POMK NM_032237.4
POMT1 NM_007171.3
POMT2 NM_013382.5
RXYLT1 NM_014254.2
TCAP NM_003673.3
TK2 NM_004614.4

DMD: Analysis guarantees del/dup detection at single-exon resolution.
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.