Cerebrotendinous xanthomatosis

Test Type : Molecular
Test Name : Cerebrotendinous xanthomatosis
Gene Name : CYP27A1
OMIM No : 606530
Phenotype Number : 213700
LOKASYON GRCh38 : 2:218,781,732-218,815,292
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_000784
Other informations :