Thanatophoric dysplasia, type I (additionl mutations)
Analysis ID 245
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Thanatophoric dysplasia, type I (additionl mutations)
OMIM 187600
Clinical information Thanatophoric dysplasia is a severe skeletal dysplasia that is usually lethal in the perinatal period. Cases of TD were divided into two subtypes based on the presence of changes in femoral bones (curved vs straight). Patients with straight and relatively long femurs always have associated severe cloverleaf skull and are designated as TD type II (TD2), while cases with curved, short femurs with or without cloverleaf skull are designated as TD type I (TD1).
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes FGFR3 (exon 8)
Analysis description Sequencing of exon 8 of the FGFR3 gene
Analysis indication Symptoms of thanatophoric dysplasia
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders