Parkinson Disease Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10337 ATP13A2 81479,81479 Order Options and Pricing
CHCHD2 81479,81479
DNAJC6 81479,81479
EIF4G1 81479,81479
FBXO7 81479,81479
GBA 81479,81479
GCH1 81405,81479
GIGYF2 81479,81479
HTRA2 81479,81479
LRRK2 81408,81479
MAPT 81406,81479
PARK7 81479,81479
PINK1 81405,81479
PLA2G6 81479,81479
PRKN 81406,81479
RAB39B 81479,81479
SLC6A3 81479,81479
SNCA 81479,81479
SPR 81479,81479
SYNJ1 81479,81479
TAF1 81479,81479
UCHL1 81479,81479
VPS13C 81479,81479
VPS35 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10337Genes x (24)81479 81405, 81406, 81408, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Parkinson disease is the second most common neurodegenerative movement disorder. Parkinson disease affects more than 1% of 55-year-olds and more than 3% of those older than age 75 years. Males are more likely to be affected than females. The most common onset for Parkinson disease is around age 60. However, the juvenile form can have onset before 20 years of age. Early onset form is ≤50 years of age, while late-onset is after 50 years of age. Within Parkinson disease, only a small fraction of patients (5-10%) are monogenic (Mendelian) inherited (Abeliovich and Gitler. 2016. PubMed ID: 27830778; Sandor et al. 2017. PubMed ID: 28117402).

The major symptoms of Parkinson's disease include bradykinesia, rigidity, tremor and postural instability. Patients commonly present with a unilateral resting tremor, often described as a pill rolling motion, or bradykinesia, which is a slowness in the execution of movement. As the disease progresses, patients display a stooped posture, shuffling gait, lower limb dystonia and have an increased likelihood of falling. Non-motor features of Parkinson disease include mood disorders, such as depression or anxiety, and sleep disturbance. Dementia may be seen late in Parkinson disease progression manifesting as personality changes and/or memory loss (Beitz. 2014. PubMed ID: 24389262; Abeliovich and Gitler. 2016. PubMed ID: 27830778). The key neuropathology of Parkinson disease is the loss of dopaminergic neurons in the substantia nigra in the midbrain (Beitz. 2014. PubMed ID: 24389262). The hallmark of Parkinson disease in neuropathology is the presence of intraneuronal proteinaceous inclusions, termed Lewy bodies or Lewy neurites (Abeliovich and Gitler. 2016. PubMed ID: 27830778). The presence of Lewy Bodies, aggregates of alpha-synuclein, in dopaminergic neurons is variable (Doherty and Hardy. 2013. PubMed ID: 23653422). Patients often respond to treatment with levodopa, a chemical that can cross the blood-brain barrier and be converted into dopamine. Response of motor symptoms to levodopa is also used as evidence to support a Parkinson diagnosis.

Genetics

In this panel, Parkinson disease is inherited in an autosomal recessive manner in 11 genes (ATP13A2, DNAJC6, FBXO7, PRKN/PARK2, PARK7, PINK1, PLA2G6, SLC6A3, SPR, SYNJ1, VPS13C). Parkinson disease is inherited in autosomal dominant manner in 4 genes (CHCHD2, LRRK2, SNCA, and VPS35) while in 2 genes (RAB39B and TAF1) it is inherited in an X-linked recessive manner. Parkinson disease due to pathogenic variants in GCH1 can be inherited either in autosomal dominant or recessive manner. GBA and MAPT, EIF4G1, GIGYF2, HTRA2, UCHL1 are susceptibility genes for Parkinson Disease.

Di-allelic pathogenic variants in SLC6A3 cause infantile Parkinsonism-dystonia. Pathogenic variants in ATP13A2, DNAJC6 and PRKN are responsible for the juvenile form of Parkinson disease while pathogenic variants in ATP13A2, FBXO7, PARK7, PINK1, PLA2G6, RAB39B, and SYNJ1 cause early onset Parkinson disease. Pathogenic variants in VPS35 are causative for late onset Parkinson disease. Recent studies show that the Parkinson phenotype is influenced by the severity of pathogenic variants in the GBA gene (Thaler et al 2018. PubMed ID:29784561).

Clinical Sensitivity - Sequencing with CNV PGxome

Up to 40% of Parkinson disease patients with age at onset of less than 30 years and 17% of those with age at onset of less than 50 years harbor a pathogenic variant in one of the known monogenic genes linked to Parkinson disease. Within these genes, pathogenic variants in PRKN/PARK2 and LRRK2 are the leading causes of Parkinson disease (Clarimón and Kulisevsky. 2013. PubMed ID: 24532987).

ATP13A2, DNAJC6, GBA, GCH1, MAPT, PARK7, PINK1, PLA2G6, RAB39B, SLC6A3, SNCA, SPR, TAF1, VPS13C and in particular PRKN, have also been reported to have large deletions/duplications and complex genomic rearrangements (Human Gene Mutation Database).

Of note, this sequencing test cannot generally detect large del/dup or complex rearrangements between the functional GBA gene and its pseudogene.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 98.8% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

All genetic tests have limitations. In particular, this sequencing test does not detect large deletions or complex rearrangement between the functional GBA gene and its pseudogene.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

This Parkinson Disease panel is recommended for patients suspected to have infantile onset, juvenile onset, early onset or late onset Parkinson disease.

Genes

Official Gene Symbol OMIM ID
ATP13A2 610513
CHCHD2 616244
DNAJC6 608375
EIF4G1 600495
FBXO7 605648
GBA 606463
GCH1 600225
GIGYF2 612003
HTRA2 606441
LRRK2 609007
MAPT 157140
PARK7 602533
PINK1 608309
PLA2G6 603604
PRKN 602544
RAB39B 300774
SLC6A3 126455
SNCA 163890
SPR 182125
SYNJ1 604297
TAF1 313650
UCHL1 191342
VPS13C 608879
VPS35 601501
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
3-methylglutaconic aciduria, type VIII AR 617248
Ceroid Lipofuscinosis Neuronal 12 AR 606693
Dystonia 3, Torsion, X-Linked AD 314250
Dystonia 5, Dopa-Responsive Type AR 128230
Epileptic Encephalopathy, Early Infantile, 53 AR 617389
Frontotemporal Dementia AD 600274
Gaucher Disease, Perinatal Lethal AR 608013
Gaucher Disease, Type 1 AR 230800
Gaucher Disease, Type II AR 230900
Gaucher Disease, Type IIIc AR 231005
Gtp Cyclohydrolase I Deficiency AR 233910
Infantile Neuroaxonal Dystrophy AR 256600
Infantile Parkinsonism-Dystonia XL 613135
Leprosy 2 607572
Lewy Body Dementia AD 127750
Lung Cancer AR 211980
Mental Retardation, X-Linked 72 XL 300271
Mental Retardation, X-linked, Syndromic 33 XL 300966
Neoplasm Of Ovary AD 167000
Neurodegeneration With Brain Iron Accumulation 2B AR 610217
Parkinson Disease 1 AR 168601
Parkinson Disease 11 607688
Parkinson Disease 13 AR 610297
Parkinson Disease 14 AR 612953
Parkinson Disease 15 AR 260300
Parkinson Disease 17 AD 614203
Parkinson Disease 18 AD 614251
Parkinson Disease 19 AR 615528
Parkinson Disease 2 AR 600116
Parkinson Disease 20 AR 615530
Parkinson disease 22, autosomal dominant AD 616710
Parkinson disease 23, autosomal recessive, early onset AR 616840
Parkinson Disease 4 AD 605543
Parkinson Disease 5 613643
Parkinson Disease 6, Autosomal Recessive Early-Onset AR 605909
Parkinson Disease 7 AR 606324
Parkinson Disease 8 AD 607060
Parkinson's Disease AR 168600
Parkinson-Dementia Syndrome AR 260540
Pick's Disease AD 172700
Sepiapterin Reductase Deficiency AR 612716
Spastic Paraplegia 78 AR 617225
Spastic Paraplegia 79 AR 615491
Supranuclear Palsy, Progressive, 1 AD 601104
Tobacco Addiction, Susceptibility To AR 188890
Waisman Syndrome XL 311510

Related Test

Name
PGxome®

Citations

  • Abeliovich and Gitler. 2016. PubMed ID: 27830778
  • Beitz. 2014. PubMed ID: 24389262
  • Clarimón and Kulisevsky. 2013. PubMed ID: 24532987
  • Doherty and Hardy. 2013. PubMed ID: 23653422
  • Human Gene Mutation Database (Bio-base).
  • Sandor et al. 2017. PubMed ID: 28117402
  • Thaler et al 2018. PubMed ID: 29784561

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

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2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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