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Congenital Myopathy Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
ACTA1 81479,81479
BICD2 81479,81479
BIN1 81479,81479
CCDC78 81479,81479
CFL2 81479,81479
CNTN1 81479,81479
COL12A1 81479,81479
COL6A1 81407,81479
COL6A2 81407,81406
COL6A3 81407,81479
DNM2 81479,81479
GLDN 81479,81479
KBTBD13 81479,81479
KLHL40 81479,81479
KLHL41 81479,81479
KY 81479,81479
LMNA 81406,81479
LMOD3 81479,81479
MEGF10 81479,81479
MICU1 81479,81479
MTM1 81405,81479
MYH7 81407,81479
MYO18B 81479,81479
MYPN 81479,81479
NALCN 81479,81479
NEB 81408,81479
PAX7 81479,81479
PYROXD1 81479,81479
RYR1 81408,81479
SELENON 81479,81479
SLC18A3 81479,81479
SPEG 81479,81479
STAC3 81479,81479
TBCK 81479,81479
TK2 81405,81479
TNNT1 81479,81479
TPM2 81479,81479
TPM3 81479,81479
TRIP4 81479,81479
TTN 81479,81479
UNC80 81479,81479
VMA21 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10389Genes x (42)81479 81405(x2), 81406(x2), 81407(x4), 81408(x2), 81479(x74) $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.


Genetic Counselors


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Congenital myopathy (CM) refers to a genetically and clinically heterogeneous group of disorders characterized by muscle weakness and hypotonia at birth or in infancy. Five forms of congenital myopathy are recognized by the International Standards of Care Committee for Congenital Myopathies (North et al. 2014. PubMed ID: 24456932): Nemaline Myopathy, Core Myopathy, Centronuclear Myopathy, Myosin Storage Myopathy, and Congenital Fiber Type Disproportion. The clinical course of congenital myopathy is typically static or slowly progressive. Lower facial weakness leading to an open mouth is often the first sign of congenital myopathy in the newborn. Ptosis and ophthalmoplegia are also common. See North et al. (2014) for diagnostic strategies and a comprehensive review of the congenital myopathies.


The genetics of the congenital myopathies are complex because of extensive genetic heterogeneity and overlapping clinical and histopathological findings among the five different subtypes (North et al. 2014. PubMed ID: 24456932). Congenital myopathies can be inherited in an autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) manner with some genes exhibiting both AD and AR inheritance (ACTA1, COL6A1, COL6A2, COL6A3, LMNA, MYH7, RYR1, SELENON/SEPN1, TPM3, and TTN). Of note, some dominant RYR1 central core myopathy pathogenic variants can exhibit reduced penetrance (for example the c.14818G>A variant, Davis et al. 2003. PubMed ID: 12565913).

See individual gene test descriptions for information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

A survey of a defined pediatric population (southeastern Michigan) in the United States found the prevalence of congenital myopathy (CM) to be 1:26,000 (Amburgey et al. 2011. PubMed ID: 22028225). A genetic cause was identified in 35% of cases, and pathogenic variants in the RYR1 gene were the single most common genetic cause of CM in this cohort. Non-specific findings was the most frequently encountered muscle biopsy result followed by minicores, central cores, fiber type disproportion, central nuclei, and nemaline rods (Amburgey et al. 2011. PubMed ID: 22028225). Clinical sensitivity for copy number analysis testing is expected to be low.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 97.0% 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).

Exons 82-105 of the NEB gene are organized in three nearly identical repetitive blocks of 8 exons each making this region difficult to analyze. Since there are six highly homologous alleles, there is some limitation in variant and zygosity calling in this region. If an undocumented or pathogenic variant is detected in this region via NextGen Sequencing, a unique PCR and Sanger sequencing method will be used for confirmation.

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

Individuals with clinical symptoms consistent with congenital myopathy.


Name Inheritance OMIM ID
Arthrogryposis Multiplex Congenita Distal Type 1 108120
Arthrogryposis, Distal, Type 2B 601680
Autosomal Recessive Centronuclear Myopathy AR 255200
Benign Scapuloperoneal Muscular Dystrophy With Cardiomyopathy 181350
Bethlem Myopathy AD,AR 158810
Bethlem Myopathy 2 AD 616471
Cardiomyopathy, Dilated, 1KK AD 615248
Central Core Disease AR, AD 117000
Centronuclear myopathy 5 AR 615959
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay AD 616266
Congenital Fiber Type Disproportion AR, AD 255310
Distal Myopathy Markesbery-Griggs Type 600334
Emery-Dreifuss muscular dystrophy 3, AR 616516
Hereditary Myopathy With Early Respiratory Failure 603689
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies AR 615419
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 AR 616801
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 AR 616900
Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism AR 616549
Lethal congenital contracture syndrome 11 AR 617194
Lethal Congenital Contracture Syndrome 5 615368
Limb-Girdle Muscular Dystrophy, Type 1B 159001
Malignant Hyperthermia 145600
Minicore Myopathy With External Ophthalmoplegia 255320
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type) AR 609560
Muscular dystrophy, congenital, Davignon-Chauveau type AR 617066
Muscular Dystrophy, Congenital, LMNA-Related AR, AD 613205
Muscular Dystrophy, Limb-Girdle, Type 2J 608807
Myasthenic syndrome, congenital, 21, presynaptic AR 617239
Myopathy with Extrapyramidal Signs AR 615673
Myopathy, Centronuclear AD 614807
Myopathy, Centronuclear, 1 AD 160150
Myopathy, Congenital, Compton-North AR 612540
Myopathy, Distal, 1 160500
Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia AD,AR 614399
Myopathy, Early-Onset, With Fatal Cardiomyopathy AR 611705
Myopathy, myofibrillar, 7 AR 617114
Myopathy, myofibrillar, 8 AR 617258
Myopathy, Myosin Storage AD 608358
Myopathy, Myosin Storage, Autosomal Recessive 255160
Myopathy, X-linked, with excessive autophagy XL 310440
Native American myopathy AR 255995
Nemaline Myopathy 1 AR, AD 609284
Nemaline Myopathy 10 AR 616165
Nemaline myopathy 11, autosomal recessive AR 617336
Nemaline Myopathy 2 AR 256030
Nemaline Myopathy 3 AR, AD 161800
Nemaline Myopathy 4 AD 609285
Nemaline Myopathy 5 AR 605355
Nemaline Myopathy 6 AD 609273
Nemaline Myopathy 7 AR 610687
Nemaline Myopathy 8 AR 615348
Nemaline Myopathy 9 AR 615731
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 AR 617069
Rhabdomyosarcoma Alveolar AR 268220
Rigid Spine Muscular Dystrophy 1 AR, AD 602771
Scapuloperoneal Myopathy, Myh7-Related 181430
Severe X-Linked Myotubular Myopathy XL 310400
Spinal muscular atrophy with congenital bone fractures 1 AR 616866
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2 AD 615290
Ullrich Congenital Muscular Dystrophy AD 254090

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Ordering Options

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myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
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Requisition Form

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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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