Invitae Myotonia and Paramyotonia Congenita Panel
Use
The Invitae Myotonia and Paramyotonia Congenita panel analyzes 2 genes associated with non-dystrophic forms of myotonia. This panel is useful for individuals with clinical signs and symptoms of myotonic syndromes to confirm the diagnosis, provide anticipatory guidance, help determine which relatives are at risk, and guide enrollment in clinical trials. It is especially helpful when the inheritance pattern or disease presentation is unclear, given the multiple inheritance patterns and variable phenotypes of these conditions.
Special Instructions
This test does not include DMPK or CNBP, the genes that cause myotonic dystrophy types 1 and 2. The test can be customized by removing specific genes if needed. Preferred specimen type is whole blood collected in a purple-top EDTA tube. Alternate specimens like saliva, buccal swab, and gDNA are also accepted. Contact client services with any questions about the analysis of genes or specimen requirements.
Limitations
The assay achieves >99% analytical sensitivity and specificity for SNVs, indels 15bp but smaller than a full exon may be slightly reduced. Single-exon copy number events may not be analyzed due to sequence properties or data quality. Structural rearrangements and variants in complex sequences may not be detected. Variants outside the covered regions, such as non-coding regions, are not analyzed unless coverage is explicitly stated.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
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