Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue

Casandra

Casandra Test Code MC65500Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID PCMSPCPT Code 81443

Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue

Clinical Use

Use

This test is crucial for identifying genetic variants associated with congenital myasthenic syndromes, enabling predictive testing for at-risk family members. It offers a comprehensive genetic evaluation postmortem in cases where congenital myasthenic syndrome is suspected, facilitating risk assessment and genetic counseling for family members. Identifying a disease-causing variant can assist in confirming diagnoses, influencing prognostic decisions, clinical management, and recurrence risk assessments.

Special Instructions

Informed consent is required for New York clients. Testing primarily targets cases where whole blood is unavailable, utilizing formalin-fixed, paraffin-embedded tissue samples. Specimens may be rejected if suitable DNA concentration cannot be extracted. Appropriate documentation for consent should be included with the test request.

Limitations

Next-generation sequencing may not detect all genomic variants due to technical limitations like regions with high GC content or repetitive sequences. False-negative or false-positive results are possible, and deletion-insertion variants above a certain size may be missed. Therefore, negative results do not conclusively rule out a genetic disorder. This test is also not designed to differentiate between somatic and germline variants, and additional testing may be needed if mosaicism or somatic variants are suspected. Sanger confirmation is not usually performed.

Test Details

New York Approved