Spinal muscular atrophy with progressive myoclonic epilepsy

Test Type : Molecular
Test Name : Spinal muscular atrophy with progressive myoclonic epilepsy
Gene Name : ASAH1
OMIM No : 613468
Phenotype Number : 159950
LOKASYON GRCh38 : 8:18,055,991-18,084,960
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_177924
Other informations :