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  • Test code: 03281
  • 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 Myasthenic Syndrome Panel

Test description

The Invitae Congenital Myasthenic Syndrome Panel analyzes genes associated with congenital myasthenic syndrome (CMS), a heterogeneous group of neuromuscular conditions characterized by fatigable weakness of the skeletal muscles and variable presentation of numerous other features. These genes were curated based on currently available evidence to provide a comprehensive test for the genetic causes of CMS. 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 (21 genes)

AGRN ALG14 ALG2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ DOK7 DPAGT1 GFPT1 GMPPB MUSK PREPL RAPSN SLC18A3 SLC5A7 SYT2 VAMP1

Add-on Preliminary-evidence Genes for Congenital Myasthenic Syndrome (4 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.

LAMB2 LRP4 SCN4A SNAP25

Broad disorder tested:

  • Congenital Myasthenic Syndrome

Individual disorders tested:

  • 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), DPAGT1-
    congenital disorder of glycosylation (CDG-Ij)
  • Congenital myasthenic syndrome 14 (CMS14)
  • Congenital myasthenic syndrome 15 (CMS15),
    ALG14-congenital disorder of glycosylation (ALG14-CDG)
  • 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

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

Congenital myasthenic syndromes can be inherited in an autosomal dominant or autosomal recessive 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
AGRN NM_198576.3
ALG14 NM_144988.3
ALG2 NM_033087.3
CHAT NM_020549.4
CHRNA1 NM_000079.3
CHRNB1 NM_000747.2
CHRND NM_000751.2
CHRNE* NM_000080.3
COL13A1 NM_001130103.1
COLQ NM_005677.3
DOK7* NM_173660.4
DPAGT1 NM_001382.3
GFPT1 NM_001244710.1
GMPPB NM_021971.2
LAMB2 NM_002292.3
LRP4 NM_002334.3
MUSK NM_005592.3
PREPL NM_006036.4
RAPSN* NM_005055.4
SCN4A NM_000334.4
SLC18A3 NM_003055.2
SLC5A7 NM_021815.2
SNAP25 NM_130811.2
SYT2 NM_177402.4
VAMP1 NM_014231.3

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.
DOK7: Analysis includes the intronic variant NM_001301071.1:c.54+14_+28delGGGGGGGGGGGGCGC.
RAPSN: Analysis includes the promoter variants NM_005055.3:c.-210A>G and NM_005055.3:c.-199C>G.