Maple syrup urine disease, type II

Test Type : Molecular
Test Name : Maple syrup urine disease, type II
Gene Name : DBT
OMIM No : 248610
Phenotype Number : 248600
LOKASYON GRCh38 : 1:100,186,918-100,249,863
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_001918
Other informations :