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Distal Myopathy 2 via the MATR3 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
MATR3 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8281MATR381479 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

A variant in the matrin 3 protein, encoded by MATR3 (OMIM 164015), has been found to be causative for a form of distal myopathy often associated with vocal cord and pharyngeal weakness (VCPDM; OMIM 606070). Two large families, one of North American origin (Feit et al. Am J Mum Genet 63:1732-1742, 1998) and one of Bulgarian origin (Senderek et al. Am J Hum Genet 84:511-518, 2009) demonstrate autosomal dominant inheritance of a distal myopathy with onset typically between 35-57 years of age. The earliest sign among patients from these families is usually ankle and feet muscle weakness, although some cases present with hand weakness and in still others the first symptom is voice change. The pattern of weakness of the hands is unique, because the extensors are each affected to varying degrees (Feit et al. 1998). An asymmetric pattern of muscle involvement is typical in the early stage of the disease, but slow progression leads to symmetric weakness of the distal muscles. Shoulder and pelvic girdle muscles are eventually affected but ambulation is preserved. Most affected individuals have some vocal cord or swallowing complications. Muscle biopsies from affected individuals reveal variations in fiber size, fiber splitting, and rimmed vacuoles (Senderek et al. 2009). Serum CK levels are at the most only moderately elevated.


Distal myopathy with vocal cord and pharyngeal weakness associated with a MATR3 variant is inherited as an autosomal dominant condition. The same exon 2 p.Ser85Cys variant has been found on two distinct haplotype backgrounds in two VCPDM families, indicating at least two unique mutational origins (Senderek et al. 2009). No other MATR3 variants have been reported. Matrin 3 is expressed in skeletal muscle and is a nuclear matrix protein.

Clinical Sensitivity - Sequencing with CNV PGxome

Analytical sensitivity for the known missense variant is expected to be close to 100%. Clinical sensitivity cannot be estimated at this time.

Testing Strategy

This test provides full coverage of all coding exons of the MATR3 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

Individuals with distal myopathy and vocal cord and pharyngeal weakness with autosomal dominant inheritance.


Official Gene Symbol OMIM ID
MATR3 164015
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Myopathy, Distal, 2 AD 606070


  • Feit, H., et.al. (1998). "Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31." Am J Hum Genet 63(6): 1732-42. PubMed ID: 9837826
  • Senderek, J., et.al. (2009). "Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3." Am J Hum Genet 84(4): 511-8. PubMed ID: 19344878


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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View Ordering Instructions

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2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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