Escobar syndrome

Test Type : Molecular
Test Name : Escobar syndrome
Gene Name : CHRNG
OMIM No : 100730
Phenotype Number : 265000
LOKASYON GRCh38 : 2:232,539,691-232,548,114
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_005199
Other informations :