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Glycogen Storage Disease Type VII (Tarui Disease) via the PFKM 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
4829 PFKM 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4829PFKM81479 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

  • Maxime Cadieux-Dion, PhD

Clinical Features and Genetics

Clinical Features

Glycogen storage disease type VII (GSDVII; OMIM 232800), also known as Tarui disease, is a rare childhood-onset disorder. The most consistent feature is exercise intolerance accompanied by muscle pain, cramps, and nausea. Intense exercise may induce myoglobinuria and even kidney failure. Other symptoms may include jaundice, gallstones, and gout. Adult and elderly patients may experience progressive muscle weakness. Symptoms are generally similar to glycogen storage disease type V. A less common, rapidly progressive and fatal infantile form characterized by myopathy, blindness, and seizures has been reported.

Genetics

GSDVII is an autosomal recessive disorder caused by absence or substantial reduction in the activity of the muscle form of the glycolysis enzyme phosphofructokinase. Muscle phosphofructokinase is encoded by the PFKM gene on chromosome 12. Different and distinct genes (PFKL and PFKP) encode the liver and platelet forms of the enzyme. About 20 different causative variants have been reported in PFKM (www.hgmd.org; Rabin and Sherman. Hum Mut 6:1-6, 1995). These variants are predominantly missense and splicing and are located throughout the length of the gene. Two founder variants account for ~95% of the known variants in Ashkenazi Jewish patients.

Clinical Sensitivity - Sequencing with CNV PG-Select

Unknown. Because so few causative variants have been reported in the literature, the frequency of uninterpretable variants may be somewhat higher than in other sequencing tests.

Testing Strategy

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

Indications for Test

All patients with symptoms consistent with GSDVII are candidates for this test. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PFKM.

Gene

Official Gene Symbol OMIM ID
PFKM 610681
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Glycogen Storage Disease Type VII AR 232800

Citations

  • Raben, N., Sherman, J. B. (1995). "Mutations in muscle phosphofructokinase gene." Hum Mutat 6(1): 1-6. PubMed ID: 7550225

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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