Amyotrophic Lateral Sclerosis / Frontotemporal Lobar Degeneration Panel
Use
This panel assesses genetic variants in genes associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD), which are clinically related syndromes sharing overlapping molecular pathogenesis. ALS is the most common adult motor neuron disease, and FTLD is the second most common cause of presenile dementia (<65 years). Testing may clarify molecular diagnosis and guide clinical management for adult patients presenting with neurodegenerative symptoms compatible with ALS or FTLD.
Special Instructions
This test is intended for patients aged 18 years and older. It is part of a reflex testing strategy: C9orf72 repeat analysis (test code J805) should be activated first; if non-diagnostic, then activate this panel (test code T404).
Limitations
Limitations include that negative results do not exclude a genetic etiology because rare variants, non-coding region changes, deep intronic variants, structural variants beyond exon-level deletions/duplications, or novel genes may not be detected. Reflex testing strategy implies that not all relevant variant types (e.g., repeat expansions) are assessed within this panel.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided