Distal Myopathy Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10355 ADSS1 81479,81479 Order Options and Pricing
ANO5 81406,81479
BAG3 81479,81479
CAV3 81404,81479
CRYAB 81479,81479
DES 81405,81479
DNAJB6 81479,81479
DYSF 81479,81479
FHL1 81404,81479
FLNC 81479,81479
GNE 81406,81479
KLHL9 81479,81479
LDB3 81406,81479
MATR3 81479,81479
MYH7 81407,81479
MYOT 81405,81479
SQSTM1 81479,81479
TCAP 81479,81479
TIA1 81479,81479
TTN 81479,81479
VCP 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10355Genes x (21)81479 81404, 81405, 81406, 81407, 81479 $890 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 hereditary distal myopathies are a genetically and clinically heterogeneous group of disorders characterized by prominent weakness beginning in the anterior or posterior compartment of either the distal upper or the distal lower limbs. Weakness of the wrists and ankles is a common pattern of muscle involvement. Age of onset, disease severity, rate of progression, and muscle pathology all vary among the many genetic subtypes of this disorder. For example, patients with Laing myopathy may present as early as 4 years of age (Meredith et al. 2004. PubMed ID: 15322983), while patients affected by Udd myopathy or Welander myopathy may not become clinically affected until the 5th decade of life (Udd et al. 1993. PubMed ID: 8503797; Klar et al. 2013. PubMed ID: 23348830). Serum CpK levels are typically normal or slightly elevated. However, patients with Miyoshi myopathy, Miyoshi-like myopathy, and TCAP related myopathy have CpK levels 100-fold elevated over normal. Muscle pathology of the distal myopathies often reveal varied fiber size and abnormal vacuoles, and those subtypes with myofibrillar changes show accumulation of desmin. A diagnostic algorithm for the distal myopathies using clinical and laboratory data has been proposed (Udd. 2009. PubMed ID: 19477645). For a recent review of distal myopathies see Dimachkie and Barohn 2014 (Dimachkie and Barohn. 2014. PubMed ID: 25037092).

Genetics

Hereditary distal myopathies can be inherited as autosomal dominant, autosomal recessive, or X linked conditions. The following genes are involved in autosomal dominant distal myopathies: BAG3, CRYAB, DNAJB6, FLNC, LDB3, KLHL9, MATR3, MYOT, TIA1, SQSTM1 and VCP. The following genes are involved in autosomal recessive distal myopathies: ADSS1/ADSSL1, ANO5, DYSF, GNE, and TCAP. Some genes can exhibit both dominant and recessive inheritance: CAV3, DES, MYH7, and TTN. Scapuloperoneal myofibrillar myopathy (FHL1) is an X-linked dominant disorder. See individual gene test descriptions for information on molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Many of the subtypes of the distal hereditary myopathies are prevalent only in particular geographic regions. For this reason it is not possible to predict an over-all clinical sensitivity. Analytical sensitivity for the genes in this panel should be high as most pathogenic variants are detectable by this method. Gross deletions/duplications are a rare form of pathogenic variation among the genes in this test panel.

Testing Strategy

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

This panel typically provides 97.8% 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

Individuals with a distal pattern of muscle weakness.

Genes

Official Gene Symbol OMIM ID
ADSS1 612498
ANO5 608662
BAG3 603883
CAV3 601253
CRYAB 123590
DES 125660
DNAJB6 611332
DYSF 603009
FHL1 300163
FLNC 102565
GNE 603824
KLHL9 611201
LDB3 605906
MATR3 164015
MYH7 160760
MYOT 604103
SQSTM1 601530
TCAP 604488
TIA1 603518
TTN 188840
VCP 601023
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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