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Parkinson's Disease via the SNCA Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
SNCA 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11703SNCA81479 81479,81479 $990 Order Options and Pricing

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

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


Genetic Counselors


  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

SNCA-related Parkinson disease is a rare but important genetic cause for both familial and sporadic Parkinson disease. SNCA-related Parkinson disease 1 is known to be caused by point pathogenic variants (non copy number variants). Symptoms include slowly progressive Parkinsonism, masked face, bradykinesia, rigidity, resting tremor and gait disturbances with onset at mid to late adulthood. Patients also present with cognitive decline, depression or dementia. Patients have favorable response to Levodopa therapy (Klein and Schlossmacher 2007; Puschmann 2013).

SNCA-related Parkinson disease 4, which is known to be caused by a heterozygous triplication of the SNCA gene, is associated with the occurrence of early onset Parkinson disease with rapid progression of the disease, often with dementia and disorders of the autonomic nervous system. Compared to heterozygous triplication of SNCA, Parkinson disease caused by a heterozygous duplication of the SNCA gene shows a milder phenotype with variable penetration as low as 33% and has a good response to Levodopa therapy (Klein and Schlossmacher 2007; Oczkowska et al. 2013; Puschmann 2013).


SNCA-related Parkinson disease is inherited in autosomal dominant manner and is caused by pathogenic variants in the SNCA gene. SCNA encodes α synuclein, which is highly expressed in neurons and concentrated in their presynaptic termini and may play a role in vesicular transport processes. It has been proposed that Parkinson disease is caused by either the defective degradation of mutant α synuclein or accumulation of highly expressed α synuclein. This could explain why in Parkinson disease, α-synuclein is aggregated in Lewy body and Lewy neurites, which is the pathologic hallmark of Parkinson disease (Abeliovich and Gitler 2016; Haenseler et al. 2017).

Pathogenic variants in SNCA include missense, regulatory variants and large duplications/triplications (three copies/four copies) in the SNCA locus (Human Gene Mutation Database). One of the mechanisms for pathogenesis in SNCA-related Parkinson disease is dosage-dependent toxicity. The more copy numbers of SNCA in a patient, the more severe the disease. The breakpoint of SNCA multiplications is different in each patient, therefore, the region of duplication/triplication varies from 41.2 Mb to 0.2 Mb (La Cognata et al. 2017). De novo pathogenic variants in the SNCA gene may occur.

Clinical Sensitivity - Sequencing with CNV PGxome

SNCA point pathogenic variants are a rare cause of Parkinson disease (Puschmann 2013).

Duplication or triplication of SNCA is rare, but slightly more common than point pathogenic variants. (Puschmann 2013).

Testing Strategy

This test provides full coverage of all coding exons of the SNCA gene 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 full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

The test is recommended for patients suspected to have SNCA-related Parkinson disease (Parkinson disease 1 and 4).


Official Gene Symbol OMIM ID
SNCA 163890
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Parkinson Disease 1 AD 168601
Parkinson Disease 4 AD 605543


  • Abeliovich and Gitler. 2016. PubMed ID: 27830778
  • Haenseler et al., 2017. Scientific Reports. 7:9003. PubMed ID: 28827786
  • Human Gene Mutation Database (Bio-base).
  • Klein C., Schlossmacher M.G. 2007. Neurology. 69: 2093-104. PubMed ID: 17761553
  • La Cognata et al. 2017. PubMed ID: 27896429
  • Oczkowska A. et al. 2013. Current Genomics. 14: 502-17. PubMed ID: 24532983
  • Puschmann. 2013. PubMed ID: 23462481


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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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View Ordering Instructions

1) Select Test Method (Platform)

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2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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