Pseudoachondroplasia
Analysis ID 61
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Pseudoachondroplasia
OMIM #177170
Clinical information Pseudoachondroplasia is an autosomal dominant genetic disorder, characterized by short stature. Body length is usually normal after birth, and short stature shows up in the second or third year of a life. Adult patients measure 90-145 cm. Limbs are considerably shortened. Joint degeneration starts later than in achondroplasia and hypoachondroplasia. Disease is caused by mutations in the COMP gene, which is crucial for proper development of skeletal system.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes COMP
Analysis description Sequencing analysis of exons:10,11,12,13,14,15,16 of the COMP gene. Selected exons carry about 80% of all mutation.
Analysis indication Symptoms of pseudoachondroplasia
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders