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Spinal Muscular Atrophy, Autosomal Dominant, Adult-Onset and Amyotrophic Lateral Sclerosis-8 via the VAPB 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
8927 VAPB 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8927VAPB81479 81479,81479 $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

  • Luke Drury, PhD

Clinical Features and Genetics

Clinical Features

A variant of amyotrophic lateral sclerosis (ALS), termed ALS8 (OMIM 608627), and mild, late-onset spinal muscular atrophy (OMIM 182980) have been attributed to a variant in vesicle associated protein B, coded by VAPB (OMIM 605704). ALS8 demonstrates earlier onset and slower clinical course than classic ALS (Nishimura et al. J Med Genet 41:315-320, 2004). The mean age of disease onset was 38 years in a large Brazilian kindred, and notable initial symptoms include painful cramps, fasciculation, tremor, weakness, and fatigue (Nishimura et al., 2004). Postural tremor, which was stable over time, was also an early sign. Lower motor neuron involvement was a universal symptom, and all four limbs were affected. Serum CK was normal or slightly elevated and muscle biopsies demonstrated a neurogenic pattern (Nishimura et al. 2004). In other family members, clinical symptoms resemble a late-onset, slowly progressive spinal muscular atrophy (Nishimura et al. Am J Hum Genet 75:822-831, 2004).

Genetics

Disorders associated with VAPB demonstrate autosomal dominant inheritance. A VAPB missense variant in exon 2 has been found to segregate with disease in a Caucasian Brazilian family of Portuguese decent (Nishimura at al., J Med Genet 41:315-320, 2004; Nishimura at al. Hum Genet 118:499-500, 2005). The disorder is completely penetrant within the reported family, although variability in clinical symptoms suggests the effect of modifier genes.

Clinical Sensitivity - Sequencing with CNV PG-Select

Variants in VAPB are a rare cause of disease. Thus far the Portuguese p.Pro56Ser variant is the only pathogenic variant reported. Evidence suggests that VAPB is not significantly associated with sporadic ALS (Kirby et al. Neurology 68:1951-1953, 2007).

Testing Strategy

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

Indications for Test

Specific clinical signs observed in affected members of the Brazilian family include lower motor neuron symptoms with involvement in all four limbs, bulbar involvement, postural tremor, and painful cramping (Nishimura et al. J Med Genet 41:315-320, 2004).

Gene

Official Gene Symbol OMIM ID
VAPB 605704
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Kirby, J., et.al. (2007). "Mutations in VAPB are not associated with sporadic ALS." Neurology 68(22): 1951-3. PubMed ID: 17536055
  • Nishimura, A. L., et.al. (2004). "A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis." Am J Hum Genet 75(5): 822-31. PubMed ID: 15372378
  • Nishimura, A. L., et.al. (2004). "A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13." J Med Genet 41(4): 315-20. PubMed ID: 15060112
  • Nishimura, A. L., et.al. (2005). "A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population." Hum Genet 118(3-4): 499-500. PubMed ID: 16187141

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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