Molecular Genetics Parkinson’s Disease Panel

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Test Code:

2240
Department:

Molecular Genetics
Test Synonyms:

Parkinsons • ATP13A2 • ATP1A3 • CSF1R • DCTN1 • FBXO7 • GBA • GCH1 • LRRK2 • MAPT • PARK2 • PARK7 • PINK1 • PLA2G6 • POLG • SLC6A3 • SNCA • TAF1 • TH • VPS35
CPT Code(s):

81408

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

Saliva: 2 ORAgene™ Saliva Collection Kits (OGR-500) used according to manufacturer instructions. Please contact KDL Client Services for a Saliva Collection Kit for patients that cannot provide a blood sample.

Assisted Saliva: 4 ORAgene™ Assisted Saliva Collection Kits (OGR-575) used according to manufacturer instructions. Please contact KDL Client Services for an Assisted Saliva Collection Kit for patients that cannot provide a blood sample.

Skin Fibroblast: Punch Biopsy (Cell cultures will be prepared at KDL and used for testing), or 2 T-25 confluent flasks.

DNA: 5-10µg at a minimum of 60-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS).

For routine testing of blood and saliva (or DNA extracted from them), KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion. For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab.

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: