Infantile Parkinsonism-Dystonia Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
12609 DDC 81479,81479 Order Options and Pricing
DNM1L 81479,81479
PLA2G6 81479,81479
SLC18A2 81479,81479
SLC6A3 81479,81479
TH 81406,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
12609Genes x (6)81479 81406, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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 is set of a rare inherited progressive neurological disorders. Major features include infantile onset Parkinsonism and dystonia. Patients present with pyramidal tract signs, rigidity, tremor, bradykinesia, hypotonia, cognitive development delay and severe gross motor delay. Other features include irritable, feeding difficulties, abnormal eye movement, gastrointestinal complications and sleeping difficulties. Patients can also suffer from secondary respiratory complications or cardiac failure (Kurian et al. 2009. PubMed ID: 19478460; Kurian et al. 2011. PubMed ID: 21112253). Biochemical analysis of neurotransmitter breakdown products in cerebrospinal fluid can be used to differentiate the diagnosis (Kurian et al. 2011. PubMed ID: 21112253; Rilstone et al. 2013. PubMed ID: 23363473).

Genetics

This panel focuses on genes for infantile Parkinson-dystonia (SLC6A3 and SLC18A2), as well as genes for other genetic disorders with phenotypic overlap with infantile Parkinsonism (DDC, DNM1L, PLA2G6, TH). Pathogenic variants in genes in this panel are all inherited in an autosomal recessive manner, with the exception that DNM1L pathogenic variants can also be inherited in an autosomal dominant manner. Most of the pathogenic variants are missense.

The major gene in this panel, SLC6A3, encodes the dopamine transporter which regulates the active reuptake of dopamine from the synapse. Pathogenic variants in SLC6A3 are causative for infantile Parkinson-dystonia 1 (Kurian et al. 2009. PubMed ID: 19478460; Kurian et al. 2011. PubMed ID: 21112253; Ng et al. 2014. PubMed ID: 24613933).

SLC18A2 encodes vesicular monoamine transporter 2 which translocates dopamine and serotonin into synaptic vesicles of neurons. Pathogenic variants in SLC18A2 are causative for infantile Parkinson-Dystonia 2 (Rilstone et al. 2013. PubMed ID: 23363473).

DDC encodes DOPA decarboxylase which catalyzes the conversion of DOPA to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Pathogenic variants in DDC are causative for aromatic L-amino acid decarboxylase (AADC) deficiency (Brun et al. 2010. PubMed ID: 20505134).

DNM1L encodes dynamin-like protein 1 which mediates mitochondrial and peroxisomal fission. Certain pathogenic variants in DNM1L are causative for severe infantile Parkinsonism or lethal encephalopathy (Díez et al. 2017. PubMed ID: 28436574; Chang et al. 2010. PubMed ID: 20696759).

PLA2G6 encodes a calcium-independent phospholipases A2 group VI which catalyzes hydrolysis of the sn-2 acyl-ester bonds in phospholipids. Pathogenic variants in PLA2G6 are causative for infantile neuroaxonal dystrophy, and PLA2G6-related dystonia-parkinsonism (Salih et al. 2013. PubMed ID: 24130795; Romani et al. 2015. PubMed ID: 25164370).

TH encodes the tyrosine hydroxylase enzyme, a rate-limiting enzyme in the biosynthesis of catecholamines, including dopamine. Pathogenic variants in the TH gene are causative for Segawa syndrome (Yosunkaya et al. 2010. PubMed ID: 20399390).

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

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

Other genes in this panel can help with differential diagnosis.

Testing Strategy

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

This panel provides 100% coverage of all coding exons of the genes 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 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).

Indications for Test

This test is recommended for patients suspected to have infantile Parkinsonism-dystonia.

Genes

Official Gene Symbol OMIM ID
DDC 107930
DNM1L 603850
PLA2G6 603604
SLC18A2 193001
SLC6A3 126455
TH 191290
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

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.

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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ORDER OPTIONS

View Ordering Instructions

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.

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