Invitae Frontotemporal Dementia Panel
Use
The Invitae Frontotemporal Dementia Panel analyzes genes associated with frontotemporal dementia (FTD), a neurodegenerative condition characterized by progressive behavioral and cognitive impairment. Given the genetic heterogeneity of FTD, this test provides an efficient evaluation of several potential genes for a single clinical indication. Genetic testing can help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
Special Instructions
This test does not include the C9orf72 gene, the most common genetic cause of ALS and FTD. Please consider alternative tests if C9orf72 analysis is needed.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants and indels <15bp, but sensitivity for larger indels may be marginally reduced. Certain structural rearrangements, variants embedded in complex sequence, and non-coding variants may not be detected. Single-exon copy number events may occasionally not be analyzed due to sequence properties or data quality. Mosaicism and phasing might not be fully resolved.
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)