Spondyloepiphyseal dysplasia, Stanescu type

Test Type : Molecular
Test Name : Spondyloepiphyseal dysplasia, Stanescu type
Gene Name : COL2A1
OMIM No : 120140
Phenotype Number : 616583
LOKASYON GRCh38 : 12:47,972,966-48,006,211
Sample Type : EDTA BLOOD
Result Time : 45-60 Day
Type of Transfer : 4° / 30°
SUT Code : G100390
Transaction Name : Next Generation DNA Sequencing, 1 Gen
Method : Sequencing
Ref SEQ : NM_001844
Other informations :