Bethlem myopathy 1

Test Type : Molecular
Test Name : Bethlem myopathy 1
Gene Name : COL6A1
OMIM No : 120220
Phenotype Number : 158810
LOKASYON GRCh38 : 21:45,981,748-46,005,048
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_001848
Other informations :