Inherited Motor Neuron Disease Gene Panel, Varies

Casandra

Casandra Test Code MC41564Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID MNDPCPT Code 81443

Inherited Motor Neuron Disease Gene Panel, Varies

Clinical Use

Use

This test is useful for establishing a molecular diagnosis for patients with motor neuron disease, including conditions such as amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS), and primary muscular atrophy (PMA). It identifies variants within 34 genes known to be associated with motor neuron disease, providing valuable information for predictive testing of at-risk family members. Detecting these variants can assist in diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.

Special Instructions

For individuals with both ALS and evidence of dementia, consider the Inherited Frontotemporal Dementia and ALS Gene Panel. Targeted testing for familial variants is available for genes on this panel. Customization of the panel and single gene analysis is possible. Informed consent is required for New York clients.

Limitations

Next-generation sequencing may not detect all genomic variants. There are limitations in detecting deletions and duplications, particularly for regions with high guanine-cytosine content or repetitive sequences. The test may not reliably detect low levels of mosaicism or differentiate somatic from germline variants. In rare cases, false-negative or false-positive results may occur, especially in regions not covered effectively. Negative results do not rule out the possibility of a genetic disorder.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

Mutation (34 genes)

ALS2ANGANXA11ASAH1CCNFCHCHD10CHMP2BDCTN1ERBB4FIG4FUSHEXBHNRNPA1HNRNPA2B1KIF5AMATR3NEFHOPTNPFN1SETXSIGMAR1SOD1SPG11SPTLC1SQSTM1TAF15TARDBPTBK1TIA1TUBA4AUBQLN2VAPBVCPVRK1