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Multiple Epiphyseal Dysplasia via the MATN3 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
MATN3 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11465MATN381479 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


  • Juan Dong, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous chondrodysplasia with either autosomal dominant or recessive inheritance. Dominant MED presents early in childhood, usually with pain in the hips or knees after exercise. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity can progress, resulting in early-onset osteoarthritis (Briggs et al. GeneReviews 2011).


A number of genes are linked to autosomal dominant MED. Please refer to the MED panel description for more information. About ~20% of dominant MED is caused by variants in the MATN3 gene. MATN3 encodes matrilin-3, the third member of a family of oligomeric multidomain ECM proteins (Wagener et al. FEBS Lett 579:3323–3329, 2005). The domain structure of the matrilin family of proteins is similar; each consists of one or two vWFA domains, a varying number of EGF-like repeats, and a coiled-coil domain, which facilitates oligomerization. Matrilin-3 has been shown to interact with COMP and other cartilage collagens through the A-domain (Mann et al. J Biol Chem 279:25294–25298, 2004; Fresquet et al. J Biol Chem 285:34048–34061, 2010). Most of reported MATN3 variants are missense variants in the A-domain of matrilin-3, which appear to delay the folding of the A-domain, resulting in the retention of mutant matrilin-3 in the rough endoplasmic reticulum (Leighton et al. Hum Mol Genet 16:1728–1741, 2007).

Clinical Sensitivity - Sequencing with CNV PGxome

Testing of MATN3 is predicted to detect disease variants in up to 20% of cases with dominant MED (Briggs et al. GeneReviews 2011).

Testing Strategy

This test provides full coverage of all coding exons of the MATN3 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

Candidates for this test are patients with clinical features consistent with dominant MED but tested negative for COMP gene variants, and family members of patients who have known MATN3 variants.


Official Gene Symbol OMIM ID
MATN3 602109
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Multiple Epiphyseal Dysplasia 5 AD 607078


  • Briggs, Michael DPhD (2011). "Multiple Epiphyseal Dysplasia, Dominant."
  • Fresquet, M., et.al. (2010). "Structural and functional investigations of Matrilin-1 A-domains reveal insights into their role in cartilage ECM assembly." J Biol Chem 285(44): 34048-61. PubMed ID: 20729554
  • Leighton, M. P., et.al. (2007). "Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation." Hum Mol Genet 16(14): 1728-41. PubMed ID: 17517694
  • Mann, H. H., et.al. (2004). "Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias." J Biol Chem 279(24): 25294-8. PubMed ID: 15075323
  • Wagener, R., et.al. (2005). "The matrilins--adaptor proteins in the extracellular matrix." FEBS Lett 579(15): 3323-9. PubMed ID: 15943978


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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