Invitae Congenital Myasthenic Syndrome Panel
Use
The Invitae Congenital Myasthenic Syndrome Panel analyzes genes associated with congenital myasthenic syndrome (CMS), a heterogeneous group of neuromuscular conditions. 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.
Special Instructions
Not provided.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp, and exon-level deletions and duplications. Certain structural rearrangements or variants in complex sequence architectures may not be detected. Some gene areas, such as non-coding regions, may not be fully covered unless specified. DNA analysis may not represent the patient's genome in rare cases like bone marrow transplant or recent transfusion.
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)
Other tests from different labs that may be relevant