DNA icon

Dynactin-Related Disorders via the DCTN1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11225 DCTN1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11225DCTN181479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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 backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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

  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Distal hereditary motor neuronopathy type VIIB (HMNVIIB; OMIM 607641) is one of several disorders with hallmark features of slowly progressive distal motor neuronopathy without sensory loss. Onset is in childhood or young adulthood, and initial signs often include weakness and wasting of extensor muscles of the lower extremities, followed by involvement of the upper limbs. Distal hereditary motor neuronopathy type VIIB is differentiated from other forms by findings of breathing difficulty due to vocal fold paralysis and progressive facial weakness. Use of sensory signs on physical examination to differentiate distal hereditary motor neuronopathy from Charcot-Marie-Tooth disease can be problematic because of variability in presentation of sensory loss. Therefore, electrophysiological studies are recommended (Irobi et al. Hum Mol Genet 13:195-202, 2004). Perry syndrome (OMIM 168605) is a neuropsychiatric disorder with onset in the 5th decade of life. The earliest sign is depression, which is not responsive to antidepressant drugs or electroconvulsive therapy (Perry et al. Arch Neurol 32:108-113, 1975). Other clinical presentations include sleep disturbances, exhaustion, and weight loss. Later in the course of disease parkinsonism and respiratory failure occur. Postmortem examination in a series of cases was remarkable for reduced taurine content and other neurochemical imbalances and severe neuronal loss (Perry et al. Neurology 40:1882-1887, 1990). In other cases, however, normal brain taurine content has been reported (Purdy et al. Ann Neurol 6:523-531, 1979; Roy et al. Neurology 38:637-639, 1988).

Genetics

Distal hereditary motor neuronopathy, type VIIB and Perry syndrome are inherited as autosomal dominant disorders. Variants in the gene encoding dynactin 1 (DCTN1; OMIM 601143) are the cause of both disorders. In the cases thus far reported, all variants have resulted in amino acid substitutions.

Clinical Sensitivity - Sequencing with CNV PGxome

DCTN1 variants have been found in fewer than ten families with either HMNVIIB or Perry syndrome; therefore, clinical sensitivity cannot be estimated. Analytical sensitivity should be high because all DCTN1 variants reported to date or of the type expected to be detected by DNA sequencing of genomic DNA.

Testing Strategy

This test provides full coverage of all coding exons of the DCTN1 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

Individuals with clinical symptoms consistent with a distal neuropathy with unilateral or bilateral vocal cord paralysis; or individuals with parkinsonism, depression, weight loss, and central hypoventilation. Family history is consistent with autosomal dominant inheritance.

Gene

Official Gene Symbol OMIM ID
DCTN1 601143
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Irobi, J., et.al. (2004). "Molecular genetics of distal hereditary motor neuropathies." Hum Mol Genet 13 Spec No 2: R195-202. PubMed ID: 15358725
  • Perry, T. L., et.al. (1975). "Hereditary mental depression and Parkinsonism with taurine deficiency." Arch Neurol 32(2): 108-13. PubMed ID: 1122173
  • Perry, T. L., et.al. (1990). "Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases." Neurology 40(12): 1882-7. PubMed ID: 2247238
  • Purdy, A., et.al. (1979). "Familial fatal Parkinsonism with alveolar hypoventilation and mental depression." Ann Neurol 6(6): 523-31. PubMed ID: 43704
  • Roy, E. P., 3rd, et.al. (1988). "Familial parkinsonism, apathy, weight loss, and central hypoventilation: successful long-term management." Neurology 38(4): 637-9. PubMed ID: 3352925

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

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×

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: $
×
Copy Text to Clipboard
×