Carbamoylphosphate synthetase I deficiency

Test Type : Molecular
Test Name : Carbamoylphosphate synthetase I deficiency
Gene Name : CPS1
OMIM No : 608307
Phenotype Number : 237300
LOKASYON GRCh38 : 2:210,477,684-210,679,106
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_001875
Other informations :