3-Methylglutaconic Aciduria, Type Viii, Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B

Test Type : Molecular
Test Name : 3-Methylglutaconic Aciduria, Type Viii, Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B
Gene Name : AUP1
OMIM No : 602434
Phenotype Number :
LOKASYON GRCh38 : 2:74,526,647-74,529,896
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_181575
Other informations :