Juvenile Onset or Early Adult Onset Parkinson Disease via the DNAJC6 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
13037 DNAJC6 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
13037DNAJC681479 81479(x2) $890 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 backbone).

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

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Parkinson disease is primarily a disorder of the elderly. It affects more than 1% of 55-year-olds and more than 3% of those older than 75 years. However, juvenile onset and early adult onset forms also occur, and these forms more often have monogenic causes (Cook Shukla et al. 2019. PubMed ID: 20301402).

DNAJC6-related Parkinson disease 19 is relatively rare. This disease is divided into two forms. One type is juvenile onset with rapidly progressive (onset age around 7-11), whereas the other is early adult onset with slowly progress Parkinson disease (onset age around 30-40). The major symptoms include progressive Parkinsonism, bradykinesia, rigidity, tremor, shuffling gait, and postural instability. In some cases, patients may present other neurological symptoms such as seizures or intellectual disability. Brain MRI reveals cerebral cortical atrophy. Patients have a variable response to L-DOPA from poor effect, mild effect to good effect (Edvardson et al. 2012. PubMed ID: 22563501; rolu et al. 2013. PubMed ID: 23211418; Olgiati et al. 2016. PubMed ID: 26528954; Puschmann. 2017. PubMed ID: 28733970).

As juvenile onset or early adult onset Parkinson disease can be caused by defect in a number of genes with variable and overlapping presentations, diagnosis by clinical manifestation and image study only can be difficult. An accurate molecular diagnosis is critical for optimal treatment, prognosis, prediction of recurrence risk, as well as future family plans.

Genetics

DNAJC6-related Parkinson disease (Parkinson disease 19) is inherited in autosomal recessive manner. DNAJC6 encodes HSP40 auxilin, a neuronal protein involved om clathrin-mediated endocytosis and regulating molecular chaperone activity. Auxilin is expressed in neurons, especially in nerve terminals. A null mouse model of DNAJC6 shows a defect in clathrin mediated endocytosis. DNAJC6 related disorders are a rare cause of Parkinson disease (Edvardson et al. 2012. PubMed ID: 22563501; Köroğlu et al. 2013. PubMed ID: 23211418; Olgiati et al. 2016. PubMed ID: 26528954).

Pathogenic variants in DNAJC6 include nonsense, missense, splicing, and a small frameshift deletion. A large deletion in the DNAJC6 locus has also been reported (Human Gene Mutation Database). Apparently, truncating variants in DNAJC6 are causative for juvenile onset Parkinson disease, whereas missense variants typically result in early adult onset Parkinson disease. No de novo variants have been documented in this gene. Documented causative variants are family specific. DNAJC6 has been cited as a conditionally essential gene for growth of human tissue culture cells (Online Gene Essentiality, ogee.medgenius.info). DNAJC6 is relatively intolerant to loss-of-function variants (Genome Aggregation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity of DNAJC6 in a large cohort of patients with DNAJC6-related disorders relevant phenotypes is unavailable in the literature because most of the studies are case reports. However, variants in this gene are a rare cause of Parkinson disease.

Testing Strategy

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

This test provides full coverage of all coding exons of the DNAJC6 gene plus 10 bases flanking noncoding DNA in all available transcripts in addition to 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 DNAJC6-related Parkinson disease (Parkinson disease 19). Targeted testing is indicated for family members of patients who have a known pathogenic variants in DNAJC6. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in DNAJC6.

Gene

Official Gene Symbol OMIM ID
DNAJC6 608375
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Parkinson Disease 19 AR 615528

Citations

  • Cook Shukla et al. 2019. PubMed ID: 20301402
  • Edvardson et al. 2012. PubMed ID: 22563501
  • Genome Aggregation Database (gnomAD).
  • Köroğlu et al. 2013. PubMed ID: 23211418
  • Olgiati et al. 2016. PubMed ID: 26528954
  • Puschmann. 2017. PubMed ID: 28733970

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.
  • 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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


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.

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