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 GenesPrice Test CPT CodeGene CPT Codes Copy CPT Codes STAT
12607 SLC6A3$890 8147981479,81479 Add to Order

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

Targeted Testing

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

Turnaround Time

18 days on average

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).

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.

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

Clinical Sensitivity - Sequencing with CNV

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.

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

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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