Infantile Parkinsonism-Dystonia 1 or Dopamine Transporter Deficiency Syndrome via the SLC6A3 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
12607 SLC6A3 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
12607SLC6A381479 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

Clinical Features and Genetics

Clinical Features

Infantile Parkinsonism-dystonia 1 or dopamine transporter deficiency syndrome is characterized by early infantile-onset progressive parkinsonism-dystonia. Age onset of the disease is 0.5 to 7 months. The major symptoms include generalized bradykinesia, generalized rigidity, cogwheeling rigidity, hypomimia, resting distal tremor, axial hypotonia, eye movement disorders, pyramidal tract features, cognitive development delay and severe gross motor delay. Other features include gastrointestinal complications and sleeping difficulties. Patients can die of secondary respiratory complications and cardiac failure (Kurian et al. 2009. PubMed ID: 19478460; Kurian et al. 2011. PubMed ID: 21112253). It has also been reported that some patients present with progressive parkinsonism dystonia with juvenile onset, or even later-onset (Ng et al. 2014. PubMed ID: 24613933). Of note, biochemical analysis in cerebrospinal fluid from all affected patients revealed increased ratios of homovanillic acid to 5-hydroxyindoleacetic acid, which are degradation products of dopamine and serotonin respectively (Kurian et al. 2011. PubMed ID: 21112253).

Genetics

Infantile Parkinson-dystonia 1 or dopamine transporter deficiency syndrome is inherited in an autosomal recessive manner and is caused by pathogenic variants in the SLC6A3 gene, which encodes the dopamine transporter (Kurian et al. 2009. PubMed ID: 19478460). Pathogenic variants in SLC6A3 include missense, nonsense, splicing, small frameseshift deletions/insertions, small indels, as well as large deletions (Kurian et al. 2009. PubMed ID: 19478460; Kurian et al. 2011. PubMed ID: 21112253; Ng et al. 2014. PubMed ID: 24613933, Puffenberger et al. 2012. PubMed ID: 22279524; Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity of SLC6A3 in a large cohort of patients with infantile Parkinsonism-dystonia 1 or dopamine transporter deficiency syndrome is unavailable in the literature, because most of the studies are case reports or family studies. Pathogenic variants in SLC6A3 are the most common cause of infantile Parkinsonism with dystonia. Analytical sensitivity should be high as nearly all reported pathogenic variants are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the SLC6A3 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

SLC6A3 sequencing is recommended for patients suspected to have infantile Parkinsonism-dystonia 1 or dopamine transporter deficiency syndrome. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SLC6A3.

Gene

Official Gene Symbol OMIM ID
SLC6A3 126455
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Infantile Parkinsonism-Dystonia AR 613135

Citations

  • Human Gene Mutation Database (Biobase).
  • Kurian et al. 2009. PubMed ID: 19478460
  • Kurian et al. 2011. PubMed ID: 21112253
  • Ng et al. 2014. PubMed ID: 24613933
  • Puffenberger et al. 2012. PubMed ID: 22279524

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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