Invitae Hereditary Parkinson Disease and Parkinsonism Panel
Use
The Invitae Hereditary Parkinson Disease and Parkinsonism Panel analyzes genes associated with Parkinson’s disease and related conditions presenting with parkinsonian features. Given the genetic heterogeneity of these conditions, it is challenging to use phenotype alone to ascertain the definitive cause. This panel allows for efficient evaluation of multiple potential genes for a single clinical indication, aiding in the confirmation of a clinical diagnosis, predicting disease prognosis and progression, facilitating early symptom detection, informing family planning and genetic counseling, or promoting enrollment in clinical trials.
Special Instructions
This test includes targeted analysis of 19 common pathogenic variants in the GBA gene. Genetic testing of these genes may also associate with additional unrelated disorders which are not covered in the list of disorders tested.
Limitations
The assay achieves >99% sensitivity and specificity for SNVs, indels 15bp, but smaller than a full exon, might have reduced sensitivity. Single-exon copy number events may not be analyzed in rare cases due to inherent sequence properties or data quality. Structural rearrangements or variants in complex sequences might not be detected. Detailed variant mapping, including mosaicism and phasing, is also challenging. Promoter and select non-coding regions are generally not analyzed unless specifically covered by the test.
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)