Parkinson Disease and Parkinsonism Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10623 ADORA1 81479,81479 Order Options and Pricing
APP 81406,81479
ATP13A2 81479,81479
ATP1A3 81479,81479
ATP6AP2 81479,81479
C19orf12 81479,81479
CHCHD10 81479,81479
CHCHD2 81479,81479
CLN3 81479,81479
CP 81479,81479
CSF1R 81479,81479
CYP27A1 81479,81479
DCAF17 81479,81479
DCTN1 81479,81479
DNAJB2 81479,81479
DNAJC12 81479,81479
DNAJC13 81479,81479
DNAJC6 81479,81479
DNM1L 81479,81479
EIF4G1 81479,81479
FBXO7 81479,81479
FTL 81479,81479
GBA 81479,81479
GCH1 81405,81479
GIGYF2 81479,81479
GRN 81406,81479
HTRA2 81479,81479
KIF5A 81479,81479
LRP10 81479,81479
LRRK2 81408,81479
LYST 81479,81479
MAPT 81406,81479
PARK7 81479,81479
PDE10A 81479,81479
PDE8B 81479,81479
PDGFB 81479,81479
PDGFRB 81479,81479
PEX1 81479,81479
PINK1 81405,81479
PLA2G6 81479,81479
PODXL 81479,81479
POLG 81406,81479
POLG2 81479,81479
PRKAR1B 81479,81479
PRKN 81406,81479
PRKRA 81479,81479
PSEN1 81405,81479
PSEN2 81406,81479
PTRHD1 81479,81479
RAB29 81479,81479
RAB39B 81479,81479
SLC20A2 81479,81479
SLC30A10 81479,81479
SLC39A14 81479,81479
SLC6A3 81479,81479
SNCA 81479,81479
SNCB 81479,81479
SPG11 81407,81479
SPR 81479,81479
SYNJ1 81479,81479
TAF1 81479,81479
TARDBP 81405,81479
TENM4 81479,81479
TH 81406,81479
TWNK 81404,81479
UCHL1 81479,81479
VPS13C 81479,81479
VPS35 81479,81479
WDR45 81479,81479
XPR1 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10623Genes x (70)81479 81404, 81405, 81406, 81407, 81408, 81479 $990 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

Parkinsonism refers to all clinical conditions characterized by tremor, muscle rigidity, bradykinesia and postural instability. Parkinson disease is the primary and most common form of Parkinsonism.

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).

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

The genetic etiology of the Parkinson disease and Parkinson related disorders is extremely heterogeneous, ranging from monogenic causes with little or no influence from modifiers or environmental factors to genetically complex forms involving multiple genes, modifier genes and environmental factors (Clarimón and Kulisevsky. 2013. PubMed ID: 24532987; Hernandez et al. 2016. PubMed ID: 27090875; Klein and Schlossmacher. 2007. PubMed ID: 17761553; Abeliovich and Gitler. 2016. PubMed ID: 27830778). Parkinson disease or Parkinsonism related disorders are inherited via autosomal dominant, autosomal recessive, X-linked or complex inheritance. Parkinson diseases or Parkinson related disorders can be sporadic or inherited in families.

The panel covers well-characterized genes causative for Parkinson disease (for example, PRKN, PARK7, PINK1, LRRK2, SNCA, VPS35, DNAJC6 and PLA2G6), as well as many other genes for Parkinsonism related disorders which show overlap phenotype with Parkinson disease (APP, PSEN1, etc.). Certain genes such as GBA and MAPT are susceptibility genes for Parkinson Disease. Recent studies show that the Parkinson disease phenotype is influenced by the severity of the pathogenic variants in the GBA gene (Thaler et al 2018. PubMed ID:29784561; Taguchi et al. 2017. PubMed ID: 28847804).

See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.

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 and LRRK2 are the leading causes of Parkinson disease (Clarimón and Kulisevsky. 2013. PubMed ID: 24532987).

Testing Strategy

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

This panel typically provides 99.5% 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

Patients with symptoms suggestive of Parkinson disease are recommended.

Diseases

Name Inheritance OMIM ID
Aceruloplasminemia AR 604290
Alzheimer Disease, Type 3 AD 607822
Alzheimer Disease, Type 4 AD 606889
Alzheimer's Disease AD 104300
Amyotrophic Lateral Sclerosis Type 10 AD 612069
Basal Ganglia Calcification, Idiopathic, 1 AD 213600
Basal Ganglia Calcification, Idiopathic, 4 AD 615007
Basal Ganglia Calcification, Idiopathic, 5 AD 615483
Basal Ganglia Calcification, Idiopathic, 6 AD 616413
Cerebrotendinous Xanthomatosis AR 213700
Ceroid Lipofuscinosis Neuronal 12 AR 606693
Ceroid Lipofuscinosis Neuronal 3 AR 204200
Chediak-Higashi Syndrome AR 214500
Dystonia 12 AD 128235
Dystonia 16 AR 612067
Dystonia 3, Torsion, X-Linked XL 314250
Dystonia 5, Dopa-Responsive Type AD 128230
Essential tremor, hereditary, 5 AD 616736
Frontotemporal Dementia AD 600274
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD 615911
Frontotemporal Dementia, Ubiquitin-Positive AD 607485
Heimler syndrome 1 AR 234580
Hypermanganesemia with dystonia 1 AR 613280
Hypermanganesemia with dystonia 2 AR 617013
Hyperphenylalaninemia, Mild, Non-BH4-Deficient AR 617384
Infantile Parkinsonism-Dystonia AR 613135
Leukoencephalopathy, Diffuse Hereditary, with Spheroids AD 221820
Lewy Body Dementia AD 127750
Neurodegeneration With Brain Iron Accumulation 4 AR 614298
Neurodegeneration With Brain Iron Accumulation 5 XL 300894
Neuroferritinopathy AD 606159
Optic atrophy 5 AD 610708
Parkinson Disease 1 AD 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
Parkinsonism with Spasticity, X-Linked XL 300911
Peroxisome biogenesis disorder 1A (Zellweger) AR 214100
Peroxisome biogenesis disorder 1B (NALD/IRD) AR 601539
Perry Syndrome AD 168605
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 3 AD 609286
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 4 AD 610131
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis AR 607459
Sepiapterin Reductase Deficiency AR 612716
Spastic Paraplegia 10 AD 604187
Spastic Paraplegia 11 AR 604360
Spastic Paraplegia 43 AR 615043
Spastic Paraplegia 78 AR 617225
Spastic Paraplegia 79 AR 615491
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 AR 614881
Striatal degeneration, autosomal dominant AD 616922
Striatal Degeneration, Autosomal Dominant AD 609161
Tyrosine Hydroxylase Deficiency AR 605407
Waisman Syndrome XL 311510
Woodhouse-Sakati Syndrome AR 241080

Related Test

Name
PGxome®
Alzheimer Disease, Familial, Panel

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
  • Hernandez et al. 2016. PubMed ID: 27090875
  • Klein and Schlossmacher. 2007. PubMed ID: 17761553
  • Taguchi et al. 2017. PubMed ID: 28847804
  • 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

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2) Select Additional Test Options

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

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