Infantile Parkinsonism-Dystonia 1 or Dopamine Transporter Deficiency Syndrome via the SLC6A3 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV DetectionTest Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
---|---|---|---|---|---|
12607 | SLC6A3 | 81479 | 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.
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.
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 
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
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

ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.