Background:
Neurological disorders include a large group of conditions with genetic and phenotypic heterogeneity and often have overlapping clinical features, such as intellectual disability, seizures, microcephaly, motor disability, brain malformations (lissencephaly, molar tooth sign), vision loss, speech difficulties, and respiratory failure. Parkinson’s disease is a type of neurological disorder characterized by tremor, muscle rigidity, bradykinesia, and postural instability. The prevalence of Parkinson’s disease in the United States is estimated at 13:100,000. This next-generation sequencing test is designed to detect mutations in the coding region of 19 genes associated with Parkinson Disease.
Reasons for Referral:
- Clinical presentations of Parkinson’s disease including: tremors, abnormal movements, bradykinesia and/or rigidity.
- Positive family history (targeted testing is available if familial mutation is known)
- Carrier testing
Methodology:
Next generation sequencing using Illumina NextSeq 500 technology of the 19 Parkinsons-associated genes listed below:
Parkinsons Disease Panel (19 genes): ATP13A2, ATP1A3, CSF1R, DCTN1, FBXO7, GBA, GCH1, LRRK2, MAPT, PARK2, PARK7, PINK1, PLA2G6, POLG, SLC6A3, SNCA, TAF1, TH, VPS35
Specimen Requirements:
Blood: EDTA or ACD (Solution A or B):
- Adult: 5 mL
- Child: 5 mL
- Infant: 2-3 mL
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES. Please include detailed clinical information, including ethnicity, clinical history, and family history.
Test Performed (Days):
Weekly
Turn Around Time:
8 weeks
Shipment Sensitivity Requirements:
- Package and ship specimen to remain cold, but not frozen.
- Ship via overnight express, using the FedEx priority overnight label provided.
- Contact Client Services for shipping kits and instructions at (855) 535-1522.
References:
- Gene Reviews:
a. Farlowet al., 2014, http://www.ncbi.nlm.nih.gov/books/NBK1223
- Genetic Home Reference:
a. http://ghr.nlm.nih.gov/condition/parkinson-disease
Additional Info: