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Multiple Epiphyseal Dysplasia (MED)
Pseudoachondroplasia (PSACH)
COMP
Both MED and PSACH are characterized by short limbed dwarfism, identifiable during childhood, with a normal face and head. Skeletal findings in MED include epiphyseal dysplasia, hip dysplasia and degenerative arthritic changes, brachydactyly with shortened metacarpals and phalanges, and hyperextensible finger joints. Findings in PSACH include lordosis, kyphosis, and scoliosis as well as other vertebral/spinal anomalies and a waddling gait. Clinical diagnosis in these disorders may be difficult due to the absence of characteristic facial features (in contrast to achondroplasia) and the fact that growth retardation may not be apparent until the second year of life. Mutation in the COMP gene (cartilage oligomeric matrix protein), a member of the thrombospondin gene family, underlies both disorders as they are allelic.
Using genomic DNA obtained from a blood specimen in EDTA, we perform bi-directional sequence analysis of 12 coding exons (exons 8-19) of the COMP gene, where all previously reported mutations have been found. Once a mutation has been identified, mutation-specific diagnostic and prenatal testing is available in this family.
Buccal brush specimens are not accepted for this test. Please send 1-5 ml whole blood in a purple top, EDTA tube. For infants, 1-2 ml of blood is sufficient.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Multiple epiphyseal dysplasia; MED; COMP; Pseudoachondroplasia; PSACH; skeletal dysplasia; brachydactyly; lordosis; kyphosis; scoliosis; dwarfism; arthritis; cartilage
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