Molecular Genetics Service Profile
Pseudoachondroplasia
OMIM number - 177170
Introduction - Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia affecting at least 1 in 20,000 individuals and is characterised by disproportionate short stature, deformity of the legs, short fingers, loose joints and ligamentous laxity. PSACH is caused exclusively by mutations of the cartilage oligomeric matrix protein gene (COMP) located on chromosome 19p13.1.
Referrals - We accept referrals from patients with a clinical/radiographic diagnosis or requiring a differential diagnosis of PSACH. 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 sequencing of exons 8-19 of COMP. If an unpublished missense change is identified we may request further family samples, when available, in order to assist in the interpretation.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 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
We detect a mutation in the majority of referrals that have been diagnosed as PSACH by the ESDN case manager. 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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