Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease with C9orf72 Panel
Use
This panel analyzes genes associated with neurodegenerative conditions like ALS, FTD, and Alzheimer disease. Genetic testing can confirm diagnoses, predict progression, assist early detection, support family planning and genetic counseling, and aid clinical trial enrollment. Genes are curated for hereditary dementia and ALS, considering the genetic heterogeneity that complicates phenotype-based selections.
Special Instructions
Pre-test genetic counseling is advised for patients considered for genetic testing due to hereditary risks of neurodegenerative disorders. This panel may be customized by adding or removing genes based on clinical needs.
Limitations
This test may not detect structural rearrangements, large indels, or certain variants in complex regions. Sequence changes in non-coding areas are not covered unless specified. Limitations on single-exon event detection exist due to sequence issues.
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
Not provided
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant