Inherited Parkinson Disease Gene Panel, Varies

Casandra

Casandra Test Code MC27836Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID PARDPCPT Codes 81403, 81404, 81405, 81406, 81407, 81408, 81479

Inherited Parkinson Disease Gene Panel, Varies

Clinical Use

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

Informed consent is required for New York clients. Document on the request form or electronic order that a copy is on file. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request with the specimen. A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

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.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

Mutation (94 genes)

ADORA1AHSA1ANGANO3APPATP13A2ATP1A3ATP6AP2ATP7BC19orf12CHCHD2CHMP2BCLN3CPCSF1RCYP27A1DCAF17DCTN1DDCDNAJB2DNAJC12DNAJC13DNAJC6DNM1LEIF4G1FBXO7FTLFUSGBAGCH1GIGYF2GRNHTRA2KIF5ALRP10LRRK2LYSTMAPTOPTNPANK2PARK7PDE10APDE8BPDGFBPDGFRBPEX1PINK1PLA2G6PLD3PODXLPOLGPOLG2PRKAR1BPRKNPRKRAPRRT2PSEN1PSEN2PTRHD1RAB29RAB39BRIC3SIGMAR1SLC18A2SLC20A2SLC30A10SLC39A14SLC6A3SNCASNCBSOD1SPG11SPRSQSTM1SYNJ1TAF1TAF15TARDBPTENM4THTHAP1TMEM230TOR1ATUBA4ATWNKUBQLN2UCHL1UNC13AVCPVPS13AVPS13CVPS35WDR45XPR1