Invitae Frontotemporal Dementia with C9orf72 Panel
Use
The Invitae Frontotemporal Dementia with C9orf72 Panel analyzes genes that are associated with frontotemporal dementia (FTD), a neurodegenerative condition characterized by progressive behavioral and cognitive impairment. The panel helps in analyzing the genetic heterogeneity associated with these conditions, providing a comprehensive analysis for FTD. This includes testing for the hexanucleotide repeat expansion in the C9orf72 gene, which is a significant genetic cause of FTD and ALS. The panel aids in confirming clinical diagnosis, predicting disease prognosis, facilitating early detection of symptoms, informing family planning and genetic counseling, or promoting enrollment in clinical trials.
Special Instructions
Some genes included in the test may be associated with additional unrelated disorders, not listed in the disorders tested.
Limitations
This assay does not include variants outside the analyzed regions, such as structural rearrangements or variants in non-coding regions unless explicitly guaranteed. Certain variants like single-exon copy number events may not be analyzed due to sequence properties or data quality. The test also may not fully resolve mosaicism, phasing, or mapping ambiguity 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)