Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel
Use
The Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel analyzes genes associated with neurodegenerative conditions affecting the nervous system, including ALS, FTD, and Alzheimer disease. It assists in confirming clinical diagnosis, predicting disease prognosis and progression, and informing family planning and genetic counseling. It may provide a basis for enrollment in clinical trials.
Special Instructions
This panel does not include the C9orf72 gene, common in ALS and FTD. Other tests including this gene can be considered. This test should be accompanied by pre-test genetic counseling, especially for neurodegenerative disorders without known treatments.
Limitations
This test may not detect structural rearrangements or variants in complex genomic regions and may not fully resolve certain details like mosaicism or phasing. Sequence changes in the promoter, non-coding exons, and other non-coding regions are generally not covered unless 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)