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Inclusion Body Myopathy and Autosomal Recessive, Early Onset Myopathy via the MYH2 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
MYH2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9837MYH281479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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.


Genetic Counselors


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Inclusion body myopathy is a heterogeneous group of disorders characterized by muscle fibers with rimmed vacuoles and inclusions consisting of filaments with a diameter of 15 to 21 nm (Griggs et al. Ann Neurol 38:705-713, 1995). Dominantly inherited inclusion body myopathy (IMB3; OMIM 605637) was first described in a large Swedish family (Darin et al. Ann Neurol 44:242-248, 1998) and subsequently mutations in the myosin heavy chain IIa gene (MYH2; OMIM 160740) were shown to be causative (Martinsson et al. Proc Natl Acad SciUSA 97:14614-14619, 2000). IBM3 manifests itself as multiple congenital joint contractures, external opththalmoplegia, and weakness and atrophy of proximal muscles. Distribution of muscle weakness is similar to that of limb girdle and facioscapulohumeral muscular dystrophies (Martinsson et al. Am J Hum Genet 64:1420-1426, 1999). Contractures normalized during childhood in affected members of the Swedish family, and myopathy was mild in childhood and adolescence. Worsening muscle weakness along with elevated serum CpK levels were seen in affected individuals between 30 and 50 years of age. Muscle biopsies of affected children show mild changes including focal disorganization of myofilaments, variability in fiber size, and central placed nuclei. More significant pathology is seen in adult biopsies including dystrophic changes and rimmed vacuoles with cytoplasmic and nuclear inclusions containing filaments reminiscent of inclusion body myopathy (Tajsharghi et al. Neurol 58:780-786, 2002).

MYH2-related autosomal recessive early onset myopathy is a rare disorder caused by complete absence of skeletal muscle myosin heavy chain IIa protein (Tajsharghi et al. Brain 133:1451–1459, 2010).  This disorder has been described in only a small number of families (Tajsharghi et al., 2010). The key clinical features are pronounced ophthalmoplegia and generalized weakness.  Specific muscles affected by weakness include facial muscles, and neck and elbow flexors.  Age at onset was reported to be in early childhood, and intrafamilial variability in phenotypic expression is reported (Tajsharghi et al., 2010). In patients evaluated by EMG and muscle imaging, myopathic findings and moderate fatty degenerative changes in thigh and medial gastrocnemius muscles were observed (Tajsharghi et al., 2010). Muscle biopsies show internalized nuclei and fiber size variation. Serum CpK levels are normal.  The disease is non progressive.


Inclusion body myopathy due to MYH2 gene mutations (IBM3) is inherited as an autosomal dominant disorder. A similar disorder caused by GNE gene mutations and with autosomal recessive inheritance has also been reported (IBM2; OMIM 600737). 

Early onset myopathy due to MYH2 mutations is inherited as an autosomal recessive disorder.  MYH2-related autosomal recessive early onset myopathy results from null mutations of the MYH2 gene (Tajsharghi et al. Brain 133:1451–1459, 2010).

Clinical Sensitivity - Sequencing with CNV PGxome

Inclusion Body Myopathy due to MYH2 mutations is a rare disorder; thus far a single family has been reported. At this time it is not possible to predict what portion of sporadic IBM is caused by MYH2 gene mutations. Autosomal recessive early onset myopathy due to MYH2 mutations is a rare disorder; thus far three families have been reported. Clinical sensitivity cannot be accurately predicted.

Thus far, no gross deletions or duplications have been reported in MYH2 (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the MYH2 gene 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 full 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 consistent with inclusion body myopathy, demonstrated autosomal dominant inheritance, and a muscle biopsy with characteristic immunohistochemical features. Patients with clinical features consistent with early onset myopathy, demonstrated autosomal recessive inheritance, and a myopathic muscle biopsy. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MYH2.


Official Gene Symbol OMIM ID
MYH2 160740
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Inclusion Body Myopathy 3 AR, AD 605637


  • Darin, N., et.al. (1998). "Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles." Ann Neurol 44(2): 242-8. PubMed ID: 9708547
  • Griggs, R. C., et.al. (1995). "Inclusion body myositis and myopathies." Ann Neurol 38(5): 705-13. PubMed ID: 7486861
  • Human Gene Mutation Database (Bio-base).
  • Martinsson, T., et.al. (1999). "Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1." Am J Hum Genet 64(5): 1420-6. PubMed ID: 10205275
  • Martinsson, T., et.al. (2000). "Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene." Proc Natl Acad Sci U S A 97(26): 14614-9. PubMed ID: 11114175
  • Tajsharghi H. et al. (2010). "Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations." Brain 133:1451-1459. PubMed ID: 20418530
  • Tajsharghi, H., et.al. (2002). "Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age." Neurology 58(5): 780-6. PubMed ID: 11889243


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

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