Paroxysmal Nonkinesigenic Dyskinesia (DYT8) via the PNKD Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
8489 PNKD 81406 81406,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8489PNKD81406 81406(x1), 81479(x1) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

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

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

  • Jamie Fox, PhD

Clinical Features and Genetics

Clinical Features

Paroxysmal nonkinesigenic dyskinesia (PNKD, DYT8) (OMIM 118800) is a rare dystonia that involves episodes of involuntary movement such as ballistic movements or dystonic posturing often in the face and extremities triggered by non-movement-related stressors such as hunger, alcohol, caffeine, exhaustion, or emotional stress. Episodes are also known to occur spontaneously and while usually of short duration can last for hours.

Genetics

The PNKD gene is the primary gene associated with PNKD (Rainier et al. Arch Neurol 61:1025-1029, 2004; Lee et al. Hum Mol Genet 13:3161-3170, 2004; Chen et al. Arch Neurol 62:597-600, 2005). The PNKD gene is also known as the myofibrillogenesis regulator 1 (MR-1) gene and as DYT8 (dystonia locus 8). Familial PNKD is autosomal dominant with incomplete penetrance. About 90% of people who carry a variant in the PNKD gene will be affected. Two causative missense variants, c.20C>T (p.Ala7Val) and c.26C>T (p.Ala9Val), have been identified to date. Both are found in exon 1. There is some evidence for a possible second PNKD locus on chromosome 2q31 (Spacey et al. Neurology 66:1588-1590, 2006).

Clinical Sensitivity - Sequencing with CNV PG-Select

Unknown at this time.

Testing Strategy

This test provides full coverage of all coding exons of the PNKD gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with symptoms consistent with PNKD, and the family members of patients with known variants. In addition to this test, PreventionGenetics also offers sequencing of several other dystonia genes.

Gene

Official Gene Symbol OMIM ID
PNKD 609023
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Paroxysmal Choreoathetosis AD 118800

Citations

  • Chen, D. H., et.al. (2005). "Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds." Arch Neurol 62(4): 597-600. PubMed ID: 15824259
  • Lee, H. Y., et.al. (2004). "The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway." Hum Mol Genet 13(24): 3161-70. PubMed ID: 15496428
  • Rainier, S., et.al. (2004). "Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis." Arch Neurol 61(7): 1025-9. PubMed ID: 15262732
  • Spacey, S. D., et.al. (2006). "Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia." Neurology 66(10): 1588-90. PubMed ID: 16717228

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

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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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