Parkinson disease/Parkinsonism


Test Details
TEST CODE NGS357
TEST METHODOLOGY NGS
TAT (TURNAROUND TIME) 2 - 4 weeks
GENES 74
CPT CODE 81405, 81406, 81479
PRICE $1995
RECOMMENDED MNG KITS
  • SINGLE Blood Genetic Testing
  • Buccal Swab Genetic Testing

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Clinical Information
Clinical Significance

Parkinsonism refers to all clinical states characterized by tremor, muscle rigidity, slowed movement (bradykinesia) and often postural instability. Parkinson disease is the second most common neurodegenerative disorder, after Alzheimer disease. Parkinson disease affects more than 1% of 55-year-olds and more than 3% of those older than age 75 years. Parkinson disease is mostly identified as a de novo case in a family.

The cardinal pathologic feature of Parkinson disease is the loss of dopaminergic neurons in the substantia nigra with intracytoplasmic inclusions (Lewy bodies) in the remaining, intact nigral neurons. Onset is classically unilateral and may include other abnormal movements such as postural or action tremor as well as limb dystonia. Common associated non-motor findings include insomnia, depression, anxiety, rapid eye movement (REM) behavior disorder, fatigue, constipation, dysautonomia, and anosmia. Psychiatric manifestations, which include depression and visual hallucinations, are common but not uniformly present. Dementia eventually occurs in at least 20% of cases.

Relevant Diseases
  • Dementia/Movement Disorders: Parkinson Disease

Specimen Information
Acceptable Sample Types
  • Muscle
  • Cultured Fibroblasts
  • Whole Blood - EDTA
  • Extracted DNA - Leukocytes
  • Buccal Cells
Sample Preparation: (1) Blood specimens: Draw blood in an EDTA tube. Preferred volume: 4 milliliters (adults and pediatrics), Minimum volume: 2 milliliters; (2) DNA extracted from leukocytes, muscle, or fibroblasts: Preferred quantity: 4 micrograms, Minimum quantity: 3 micrograms (Genomic DNA should be eluted in sterile Dnase/Rnase free water or TE. The A260:A280 ratio should be 1.8-2.0.); (3) 2 T-25 flasks of fibroblasts; (4) 50-75 milligrams muscle snap frozen in liquid nitrogen and maintained at -80┬░Celsius or below. (5) Skin biopsy (Fibroblasts will be cultured from skin specimen for genetic testing): Skin biopsy may be taken from the inner forearm with a sterile skin punch (2-5 millimeters) or at incision site of muscle biopsy. Site is sterilized with alcohol swabs only (other reagents will inhibit cell isolation/growth). Biopsy site may be anaesthetized with 2% lidocaine with epinephrine. Depth of punch is 2mm. Transfer skin biopsy into 15 milliliter conical tube filled with sterile culture media. (6) Buccal cells.
Shipping Condition: MNG SmartKits are available for free shipping of specimens. Please see our website for details. If you are not using a MNG SmartKit: (1) Blood specimens should be shipped in a secure container at room temperature. (2) Extracted DNA should be shipped priority overnight at ambient temperature. (3) T-25 flasks containing fibroblasts should be shipped in an insulated container at room temperature. Flasks should be completely filled with media and cells should be ~90% confluent. Fibroblast samples must be certified free from Mycoplasma. MNG is able to perform this service for a small charge (See TC05). (4) Muscle samples should be shipped frozen in an insulated container with 5-7 lbs dry ice. (5) Buccal cells should be shipped in a secure container at room temperature. (6) Skin Biopsy: Conical containing the skin specimen should be shipped in a secure container with cold pack (DO NOT FREEZE). All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday (No Sunday or holiday deliveries accepted).

Genes Assessed
ADH1C
AFG3L2
APOE
APP
ATP13A2
ATP1A3
ATXN2
C10ORF2
C19orf12
C9orf72
CHCHD10
CLN3
CP
CSF1R
CYP2D6
DCAF17
DCTN1
DDC
DNAJC12
DNAJC5
DNAJC6
EIF4G1
ERCC8
FBXO7
FMR1
FTL
GBA
GBA2
GCH1
GIGYF2
GRN
HTRA2
KIF1C
KIF5A
LRRK2
LYST
MAPT
MCCC1
MECP2
MICU1
MPV17
NAXE
NPC1
PARK2
PARK7
PDGFB
PDGFRB
PINK1
PITX3
PLA2G6
POLG
PRKRA
PRNP
PSEN1
PTEN
PTS
QDPR
SLC20A2
SLC6A3
SMPD1
SNCA
SNCB
SNORD118
SPG11
SPR
STX1B
SYNJ1
TAF1
TARDBP
TBP
TH
UCHL1
VPS35
WDR45

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