Molecular Genetics Service Profile
AD-Multiple Epiphyseal Dysplasia
OMIM numbers - 132400, 600204, 600969, 607078, +120210
Introduction - Autosomal dominant Multiple Epiphyseal Dysplasia (AD-MED) is an osteochondrodysplasia affecting at least 1 in 10,000 individuals and is characterised by mild to moderate short stature and joint pain. AD-MED shows considerable genetic heterogeneity; mutations in the cartilage oligomeric matrix protein gene (COMP), the matrilin-3 gene (MATN3) and the genes encoding the α1, α2, and α3 chains of Type IX collagen (COL9A1, COL9A2, COL9A3) all cause AD-MED.
Referrals - We accept referrals from patients with a clinical/radiographic diagnosis or requiring a differential diagnosis of MED. We recommend that patients are first referred via the European Skeletal Dysplasia Network (www.esdn.org) case manager system where clinical details and X-rays are reviewed, at no cost, by an expert panel.
Technical - Bi-directional fluorescent sequencing of exons 8-19 of COMP, exon 2 of MATN3, exon 8 of COL9A1 and exon 3 of COL9A2 and COL9A3, including the splice donor and acceptor sites. If an unpublished missense change is identified we may request further family samples, when available, in order to assist in the interpretation.
Price and reporting times
| Test | Price GBP(£) | TRT * |
|---|
| COMP/MATN3/COL9 mutation scanning
| 483.00
| 40
|
| Single mutation test
| 138.00
| 10
|
| Prenatal diagnosis
| 276.00
| 3
|
*Target reporting time in working days.
Test validation and quality assurance – information for users
Mutations are found in approximately 75% of referrals that have been diagnosed as MED by the ESDN case manager and screened for the genes listed above. Please note that the detection rate decreases if not referred via the ESDN.
The laboratory is a member of the UK Genetic Testing Network. www.ukgtn.org and has been
accredited by Clinical Pathology UK Ltd since 1997 (centre 1932) www.cpa-uk.co.uk CPA standards
are compliant with IS15189. The laboratory takes part in relevant
External Quality Assessment Schemes (www.ukneqas.org.uk, www.emqn.org).
Further informaton
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