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 Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 4829 | PFKM | 81479 | 81479,81479 | $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
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.
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
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
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2) Select Additional Test Options
No Additional Test Options are available for this test.