MOLECULAR STUDY OSTEOGENESIS IMPERFECTA (COL1A1, COL1A2 GENES) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4218

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	62 days
Information:
Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. Prevalence is estimated at between 1/10,000 and 1/20,000. Age at diagnosis depends on the severity of the disease. Five clinically distinct types of OI have been identified. The most clinically relevant characteristic of all types of OI is bone fragility, which manifests as multiple spontaneous fractures. Osteogenesis imperfecta type II is lethal, type III is severe, types IV and V are moderate, and type I is mild (see these terms). Type I is nondeforming with normal height or mild short stature, blue sclera, and no dentinogenesis imperfecta (DI; see this term). Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and DI. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and DI. Type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplastic callus, white sclera, and no DI. Other genetically different types have been observed (types VI to IX) but they are not clinically different from types II-IV. In 95% of cases, OI is caused by mutations in the COL1A1 and COL1A2 genes (17q21.33 and 7q21.3) encoding the alpha1 and alpha2 chains of type 1 collagen. These mutations can cause all five clinical types of OI. Transmission is autosomal dominant.
Links:
OMIM Entry - # 166200 - OSTEOGENESIS IMPERFECTA, TYPE I
OMIM Entry - # 166210 - OSTEOGENESIS IMPERFECTA, TYPE II
OMIM Entry - # 166220 - OSTEOGENESIS IMPERFECTA, TYPE IV
OMIM Entry - # 259420 - OSTEOGENESIS IMPERFECTA, TYPE III
OMIM Entry - + 120150 - COLLAGEN, TYPE I, ALPHA-1; COL1A1
OMIM Entry - - 120160 - COLLAGEN, TYPE I, ALPHA-2; COL1A2

   Find the record of the test by clicking here