Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel
Summary and Pricing
Test Method
Exome Sequencing with CNV DetectionTest Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
---|---|---|---|---|---|
10049 | Genes x (83) | 81479 | 81404(x5), 81405(x9), 81406(x9), 81407(x2), 81408(x1), 81479(x140) | $990 | Order Options and Pricing |
Pricing Comments
We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.
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 platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
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
The metabolic myopathies are a heterogeneous group of disorders caused by defects in muscle energy metabolism that cause inadequate production or maintenance of ATP levels. The effects may be confined specifically to skeletal muscle, or may also be observed in other tissues with significant energy requirements such as the heart, liver, kidney, brain and retina (Kahler. 2017). Typical clinical features include slowly progressive muscle weakness with or without hypotonia, premature fatigue, episodic aches, cramps and myalgia, exercise intolerance with or without a “second wind” phenomenon, rhabdomyolysis which may or may not be accompanied by myoglobinuria, high creatine kinase (CK) levels, and acute renal failure (Wortmann. 2002; Olpin et al. 2015. PubMed ID: 25878327; Kahler. 2017; Toscano et al. 2017. PubMed ID: 28763305; Lilleker et al. 2018. PubMed ID: 29223996). Age of onset is often childhood through teen years, although onset may occur any time from infancy through late adulthood. Symptoms may only occur when the activity level or nutrition state of the patient forces reliance upon the defective metabolic pathway, or may be precipitated by environmental factors such as intercurrent infection, general anesthesia or medications. Headache and nausea that are accompanied by exertional weakness or myalgia are strongly suggestive of a metabolic myopathy (Wortmann. 2002; Olpin et al. 2015. PubMed ID: 25878327) as are recurrent symptomatic episodes (Lilleker et al. 2018. PubMed ID: 29223996).
Early recognition is important as proper intervention can help prevent morbidity and/or mortality caused by the more severe symptoms (generally rhabdomyolysis and renal failure) (Olpin et al. 2015. PubMed ID: 25878327).
Genetics
This sequencing panel includes genes that have been associated with metabolic myopathies. The genes within the panel can generally be classified in three groups based on the affected area of metabolism: 1) muscle glycogenoses, 2) disorders of lipid metabolism, and 3) mitochondrial respiratory chain disorders (Olpin et al. 2015. PubMed ID: 25878327). It should be noted that this test also includes some genes that may not be typically considered to cause a metabolic myopathy. These genes are associated with disorders that may present with some clinical features that overlap with typical metabolic myopathies, such as other neuromuscular disorders or mitochondrial myopathies.
The metabolic myopathies are genetically heterogeneous. The majority are inherited in an autosomal recessive (AR) manner, though autosomal dominant (AD) and X-linked (XL) disorders are also included. See individual gene test descriptions for information on clinical features, molecular biology of gene products and spectra of pathogenic variants.
Clinical Sensitivity - Sequencing with CNV PGxome
Due to the genetic heterogeneity of the metabolic myopathies, the clinical sensitivity of this specific grouping of genes is difficult to estimate. We are currently unaware of any reports in the literature in which these genes have been sequenced together in a patient cohort with suspected metabolic myopathy, rhabdomyolysis or exercise intolerance as the primary indication for testing. The clinical sensitivity of sequencing the individual genes is generally high in patient groups with biochemical, enzymatic and/or histochemical diagnoses of the relevant disorders; details are available on the individual gene test description pages. Analytical sensitivity is expected to be high as the vast majority of variants reported in these genes are detectable via sequencing.
Gross deletions/duplications are a rare form of pathogenic variation among the majority of the genes in this test panel. However, the DYSF, GAA, GBE1, LAMP2, OPA1, SUCLA2, TAFAZZIN, and TANGO2 genes have a higher proportion of reported gross deletions/duplications (Human Gene Mutation Database).
Testing Strategy
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This panel typically provides 99.7% coverage of all coding exons of the genes 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 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
Patients with clinical features suggestive of a metabolic myopathy, including muscle weakness, exercise intolerance, and rhabdomyolysis, are good candidates for this test.
Patients with clinical features suggestive of a metabolic myopathy, including muscle weakness, exercise intolerance, and rhabdomyolysis, are good candidates for this test.
Genes
Inheritance | Abbreviation |
---|---|
Autosomal Dominant | AD |
Autosomal Recessive | AR |
X-Linked | XL |
Mitochondrial | MT |
Diseases
Related Test
Name |
---|
PGxome® |
Citations
- Human Gene Mutation Database (Bio-base).
- Kahler. 2017. Metabolic Myopathies. In: Hoffmann G.F., Nyhan W.L. and Zschocke J., editors. Inherited Metabolic Diseases: A Clinical Approach. Berlin: Springer, p 293-312.
- Lilleker et al. 2018. PubMed ID: 29223996
- Olpin et al. 2015. PubMed ID: 25878327
- Toscano et al. 2017. PubMed ID: 28763305
- Wortmann. 2002. Reumatologia. 18: 90-93.
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
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.