Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10049 ABHD5 81479,81479 Order Options and Pricing
ACAD9 81479,81479
ACADL 81479,81479
ACADM 81479,81479
ACADS 81405,81479
ACADVL 81406,81479
AGK 81479,81479
AGL 81407,81479
ALDOA 81479,81479
AMACR 81479,81479
AMPD1 81479,81479
ANO5 81406,81479
ATP2A1 81479,81479
ATP5F1D 81479,81479
C1QBP 81479,81479
CACNA1S 81479,81479
CAVIN1 81479,81479
CHCHD10 81479,81479
COL13A1 81479,81479
COQ2 81479,81479
COQ8A 81479,81479
COQ9 81479,81479
CPT1A 81479,81479
CPT2 81404,81479
CTDP1 81479,81479
DNA2 81479,81479
DYSF 81479,81479
ENO3 81479,81479
ETFA 81479,81479
ETFB 81479,81479
ETFDH 81479,81479
FDX2 81479,81479
FKRP 81404,81479
FKTN 81405,81479
FLAD1 81479,81479
GAA 81406,81479
GBE1 81479,81479
GMPPB 81479,81479
GYG1 81479,81479
GYS1 81479,81479
HADH 81479,81479
HADHA 81406,81479
HADHB 81406,81479
ISCU 81479,81479
LAMP2 81405,81479
LDHA 81479,81479
LPIN1 81479,81479
MGME1 81479,81479
OPA1 81407,81406
OPA3 81479,81479
PDSS1 81479,81479
PDSS2 81479,81479
PFKM 81479,81479
PGAM2 81479,81479
PGK1 81479,81479
PGM1 81479,81479
PHKA1 81479,81479
PNPLA2 81479,81479
POLG 81406,81479
POLG2 81479,81479
PUS1 81479,81479
PYGM 81406,81479
RBCK1 81479,81479
RNASEH1 81479,81479
RRM2B 81405,81479
RYR1 81408,81479
SGCA 81479,81479
SIL1 81405,81479
SLC16A1 81479,81479
SLC22A5 81405,81479
SLC25A20 81405,81404
SLC25A32 81479,81479
SLC25A4 81404,81479
SUCLA2 81479,81479
TAFAZZIN 81406,81479
TANGO2 81479,81479
TK2 81405,81479
TOP3A 81479,81479
TRMT5 81479,81479
TSFM 81479,81479
TWNK 81404,81479
TYMP 81405,81479
YARS2 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10049Genes x (83)81479 81404, 81405, 81406, 81407, 81408, 81479 $1130 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 PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

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, TANGO2, and TAZ 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

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.

Diseases

Name Inheritance OMIM ID
3-Methylglutaconic Aciduria Type 2 XL 302060
3-Methylglutaconic Aciduria Type 3 AR 258501
Alpha-Methylacyl-CoA Racemase Deficiency AR 614307
Brody Myopathy AR 601003
Carnitine Palmitoyltransferase I Deficiency AR 255120
Carnitine Palmitoyltransferase II Deficiency, Infantile AR 600649
Carnitine Palmitoyltransferase II Deficiency, Late-Onset AR 255110
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal AR 608836
Carnitine-Acylcarnitine Translocase Deficiency AR 212138
Cataract 38 AR 614691
Central Core Disease AD,AR 117000
Chanarin-Dorfman Syndrome AR 275630
Coenzyme Q10 Deficiency AR 607426
Coenzyme Q10 Deficiency, Primary, 2 AR 614651
Coenzyme Q10 deficiency, primary, 3 AR 614652
Coenzyme Q10 Deficiency, Primary, 4 AR 612016
Coenzyme Q10 Deficiency, Primary, 5 AR 614654
Combined Oxidative Phosphorylation Deficiency 26 AR 616539
Combined Oxidative Phosphorylation Deficiency 3 AR 610505
Combined oxidative phosphorylation deficiency 33 AR 617713
Congenital Cataracts, Facial Dysmorphism, And Neuropathy AR 604168
Congenital Disorder of Glycosylation Type It AR 614921
Congenital Muscular Dystrophy-Dystroglycanopathy (With Brain And Eye Anomalies) Type A5 AR 613153
Congenital Muscular Dystrophy-Dystroglycanopathy (With Or Without Mental Retardation) Type 5B AR 606612
Danon Disease XL 300257
Deficiency Of 3-Hydroxyacyl-CoA Dehydrogenase AR 231530
Deficiency Of Butyryl-CoA Dehydrogenase AR 201470
Erythrocyte Lactate Transporter Defect AD 245340
Exercise intolerance, riboflavin-responsive AR 616839
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 AD 615911
Fukuyama Congenital Muscular Dystrophy AR 253800
Glutaric Aciduria, Type 2 AR 231680
Glycogen Storage Disease 0, Muscle AR 611556
Glycogen Storage Disease Type II AR 232300
Glycogen Storage Disease Type III AR 232400
Glycogen Storage Disease Type IV AR 232500
Glycogen Storage Disease Type IXd XL 300559
Glycogen Storage Disease Type V AR 232600
Glycogen Storage Disease Type VII AR 232800
Glycogen Storage Disease Type X AR 261670
Glycogen Storage Disease Type XI AR 612933
Glycogen Storage Disease Type XII AR 611881
Glycogen Storage Disease Type XIII AR 612932
Glycogen Storage Disease Type XV AR 613507
Hyperinsulinemic Hypoglycemia, Familial, 7 AD 610021
Hypokalemic Periodic Paralysis AD 170400
Limb-Girdle Muscular Dystrophy, Type 2B AR 253601
Limb-Girdle Muscular Dystrophy, Type 2D AR 608099
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency AR 255100
Lipodystrophy, Congenital Generalized, Type 4 AR 613327
Malignant Hyperthermia AD 145600
Malignant Hyperthermia Susceptibility Type 5 AD 601887
Marinesco-Sjogren Syndrome AR 248800
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency AR 201450
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration AR 616878
Minicore Myopathy With External Ophthalmoplegia AR 255320
Mitochondrial Complex I Deficiency due to ACAD9 Deficiency AR 611126
Mitochondrial complex V (ATP synthase) deficiency AR 618120
Mitochondrial DNA depletion syndrome 11 AR 615084
Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type) AR 615418
Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type) AD AD 617184
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) AR 609560
Mitochondrial DNA Depletion Syndrome 4B, Mngie Type AR 613662
Mitochondrial DNA Depletion Syndrome 5 (Encephalomyopathic with or without Methylmalonic Aciduria) AR 612073
Mitochondrial DNA Depletion Syndrome 7 AR 271245
Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy AR 612075
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome AR 603041
Miyoshi Muscular Dystrophy 3 AR 613319
Miyoshi Myopathy AR 254130
Monocarboxylate Transporter 1 Deficiency AD 616095
Muscular Dystrophy, Limb-Girdle, Type 2L AR 611307
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 AR 615350
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 AR 615351
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4 AR 613152
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 AR 615352
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 AR 611588
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 AR 607155
Myasthenic Syndrome, Congenital, 19 AR 616720
Myoglobinuria, Acute Recurrent, Autosomal Recessive AR 268200
Myopathy due to Myoadenylate Deaminase Deficiency AR 615511
Myopathy With Lactic Acidosis, Hereditary AR 255125
Myopathy, Distal, With Anterior Tibial Onset AR 606768
Myopathy, isolated mitochondrial, autosomal dominant AD 616209
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 AR 613561
Neutral Lipid Storage Disease With Myopathy AR 610717
Optic Atrophy Type 1 AD 125250
Phosphoglycerate Kinase 1 Deficiency XL 300653
Polyglucosan Body Myopathy 1 with or without Immunodeficiency AR 615895
Polyglucosan Body Myopathy 2 AR 616199
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions 1 AD 157640
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 2 AD 609283
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 3 AR 609286
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 4 AD 610131
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Dominant, 5 AD 613077
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 AD 615156
Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions, Autosomal Recessive AR 258450
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 2 AR 616479
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 AR 617069
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 AR 618098
Progressive Sclerosing Poliodystrophy AR 203700
Sengers syndrome AR 212350
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis AR 607459
Sideroblastic Anemia And Mitochondrial Myopathy AR 600462
Spinal muscular atrophy, Jokela type AD 615048
Systemic Carnitine Deficiency AR 212140
Thyrotoxic Periodic Paralysis AD 188580
Trifunctional Protein Deficiency AR 609015
Very Long Chain Acyl-CoA Dehydrogenase Deficiency AR 201475

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

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