Multiple Epiphyseal Dysplasia Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10247 CANT1 81479,81479 Order Options and Pricing
COL2A1 81479,81479
COL9A1 81479,81479
COL9A2 81479,81479
COL9A3 81479,81479
COMP 81479,81479
DDR2 81479,81479
MATN3 81479,81479
SLC26A2 81479,81479
UFSP2 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10247Genes x (10)81479 81479 $1070 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

Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondrodysplasia with either autosomal dominant or recessive inheritance. Dominant MED (ADMED) occurs early in childhood and usually involves pain in the hips and/or knees after exercise. Some patients may have a waddling gait. Adult height can be in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Other features may include progressive pain and joint deformity which can lead to early-onset osteoarthritis. ADMED is caused by pathogenic variants in the COMP, MATN3, COL9A1, COL9A2, COL9A3 and COL2A1 genes (Briggs et al. 2019. PubMed ID: 20301302).

Recessive MED (ARMED) is characterized by joint pain (usually in the hips or knees) occurring in late childhood. Malformations of hands, feet, and knees; and scoliosis may also be observed. Height is usually within the normal range prior to puberty; Adult height can range from 150 to 180 cm. Pathogenic variants in the SCL26A2 gene have been reported in patients with ARMED (Hauer et al. 2018. PubMed ID: 29758562; Bonafé et al. 2014. PubMed ID: 20301483). Pathogenic variants in the CANT1, DDR2 and UFSP2 gene have been reported in ARMED and autosomal recessive spondylo-meta-epiphyseal dysplasia (Balasubramanian et al. 2017. PubMed ID: 28742282; Bargal et al. 2009. PubMed ID: 19110212; Di Rocco et al 2018. PubMed ID: 28892125; Watson et al. 2015. PubMed ID: 26428751).

Genetics

Pathogenic variants in COMP, MATN3 and type IX collagen genes (COL9A1, COL9A2 and COL9A3) account for 70% , ~20% and ~10% of ADMED, respectively (Jackson et al. 2012. PubMed ID: 21922596; Briggs et al. 2019. PubMed ID: 20301302). Pathogenic variants in SLC26A2 mainly cause autosomal recessive diastrophic dysplasia and a few have been reported in patients with ARMED and other conditions (Rossi and Superti-Furga. 2001. PubMed ID: 11241838; Bonafe et al. 2015. PubMed ID:26394607). In addition to MED, pathogenic variants in these genes also cause other skeletal dysplasia disorders. These skeletal disorders have overlapping clinical features with MED, which causes difficulties in reaching a correct clinical diagnosis. Molecular diagnosis of the skeletal dysplasia subtypes is also complex because extensive genetic heterogeneity exists for each disorder (Bonafe et al. 2015. PubMed ID:26394607). Considering the clinical and genetic heterogeneity, a molecular testing approach that interrogates all known MED genes is highly recommended.

Pathogenic variants in CANT1 have been mainly reported in patients with autosomal recessive desbuquois dysplasia (Huber et al. 2009. PubMed ID: 19853239). To date, only two homozygous missense variants were reported in two families with MED (Balasubramanian et al. 2017. PubMed ID: 28742282).

Pathogenic variants in DDR2 have been reported in patients with autosomal recessive spondylo-meta-epiphyseal dysplasia (Bargal et al. 2009. PubMed ID: 19110212).

A few missense variants in UFSP2 have been reported in patients with autosomal dominant Spondyloepimetaphyseal dysplasia (Di Rocco et al 2018. PubMed ID: 28892125; Watson et al. 2015. PubMed ID: 26428751).

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

Clinical Sensitivity - Sequencing with CNV PGxome

Causative variants in COMP, MATN3 and type IX collagen genes (COL9A1, COL9A2 and COL9A3) account for 70% , ~20% and ~10% of dominant Multiple Epiphyseal Dysplasia (MED), respectively (Jackson et al. 2012. PubMed ID: 21922596; Briggs et al. 2019. PubMed ID: 20301302). To date, only two missense variants in COL2A1 have been reported in MED patients (Jackson et al. 2012. PubMed ID: 21922596).

The sensitivity for large deletions and duplications may be low, because only a few cases with large deletions and insertions involving the COL9A3, COMP and COL2A1 genes have been reported (Van der Hout et al. 2002. PubMed ID: 12204008; Human Mutation Database).

Testing Strategy

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

This panel provides 100% 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

Candidates for this test are patients with clinical and radiologic features consistent with MED and related disorders. This test especially aids in a differential diagnosis of similar phenotypes, rules out particular syndromes, and provides the analysis of multiple genes simultaneously. Individuals who are suspected of any of these disorders, especially if clinical diagnosis is unclear, and individuals who have been found to be negative by mutation analysis for single gene tests are also candidates.

Genes

Official Gene Symbol OMIM ID
CANT1 613165
COL2A1 120140
COL9A1 120210
COL9A2 120260
COL9A3 120270
COMP 600310
DDR2 191311
MATN3 602109
SLC26A2 606718
UFSP2 611482
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Achondrogenesis Type 2 AD 200610
Achondrogenesis, Type Ib AR 600972
Atelosteogenesis, Type II AR 256050
Avascular Necrosis Of Femoral Head, Primary AD 608805
Czech Dysplasia Metatarsal Type AD 609162
Desbuquois Syndrome AR 251450
Diastrophic Dysplasia AR 222600
Epiphyseal dysplasia, multiple, 7 AR 617719
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness AD 132450
Hip dysplasia, Beukes type AD 142669
Intervertebral Disc Disorder 603932
Kniest Dysplasia AD 156550
Legg-Calve-Perthes Disease AD 150600
Multiple Epiphyseal Dysplasia 1 AD 132400
Multiple Epiphyseal Dysplasia 2 AD 600204
Multiple Epiphyseal Dysplasia 3 AD 600969
Multiple Epiphyseal Dysplasia 4 AR 226900
Multiple Epiphyseal Dysplasia 5 AD 607078
Multiple Epiphyseal Dysplasia 6 AD 614135
Osteoarthritis With Mild Chondrodysplasia AD 604864
Otospondylomegaepiphyseal Dysplasia AR 215150
Platyspondylic Lethal Skeletal Dysplasia Torrance Type AD 151210
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome AD 177170
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related AR 608728
Spondyloepimetaphyseal Dysplasia Strudwick Type AD 184250
Spondyloepimetaphyseal dysplasia, Di Rocco type AD 617974
Spondyloepiphyseal Dysplasia Congenita AD 183900
Spondyloepiphyseal Sysplasia, Stanescu Type AD 616583
Spondylometaepiphyseal Dysplasia Short Limb-Hand Type AR 271665
Spondyloperipheral Dysplasia AD 271700
Stickler Syndrome Type 1 AD 108300
Stickler Syndrome, Type 4 AD 614134
Stickler Syndrome, Type 5 AR 614284
Stickler Syndrome, Type I, Nonsyndromic Ocular AD 609508
Warburg-Cinotti syndrome AD 618175

Related Test

Name
PGxome®

Citations

  • Balasubramanian et al. 2017. PubMed ID: 28742282
  • Bargal et al. 2009. PubMed ID: 19110212
  • Bargal et al. 2009. PubMed ID: 19110212
  • BonafĂ© et al. 2014. PubMed ID: 20301483
  • Bonafe et al. 2015. PubMed ID: 26394607
  • Briggs et al. 2019. PubMed ID: 20301302
  • Di Rocco et al 2018. PubMed ID: 28892125
  • Hauer et al. 2018. PubMed ID: 29758562
  • Huber et al. 2009. PubMed ID: 19853239
  • Human Gene Mutation Database (Bio-base).
  • Jackson et al. 2012. PubMed ID: 21922596
  • Rossi and Superti-Furga. 2001. PubMed ID: 11241838
  • Van Der Hout et al. 2002. PubMed ID: 12204008
  • Watson et al. 2015. PubMed ID: 26428751

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

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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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