Inherited Parkinson Disease Gene Panel, Varies
Use
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 94 genes associated with Parkinson disease. The identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for Parkinson disease. It is useful for establishing a molecular diagnosis for patients with Parkinson disease and identifying variants within genes known to be associated with Parkinson disease, allowing for predictive testing of at-risk family members.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all genomic variants. False-negative or false-positive results may occur. Technical limitations may prevent evaluation of some gene regions, including high GC content and repetitive sequences. The test is validated to detect 95% of deletions up to 75 base pairs and insertions up to 47 base pairs. Single exon resolution for deletions/duplications may not be achieved in some instances due to reduced sequence coverage or inherent genomic complexity. Balanced structural rearrangements like translocations may not be detected. The test is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103956-9 - Parkinson Ds multigene analysis Spec
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
Result Turnaround Time
21-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |