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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 8489 | PNKD | 81406 | 81406,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
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
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.
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
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
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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.