Molecular Genetics Sandhoff Disease ( HEXB ) Gene Sequencing - NGS
Also Known As
Sandhoff Disease Gene Test, HEXB Gene Sequencing, GM2 Gangliosidosis Type II Molecular Test, Beta-Hexosaminidase A and B Deficiency Gene Test, Hexosam... Read more
Test Parameters Included
HEXB Gene Pathogenic Variant Detection (NGS-based sequencing of all coding exons and flanking intronic regions)Pathologist Molecular Genetics Remark -... Read more
Department
MOLECULAR GENETICS
Methodology
NGS
Sample Required
WB EDTA
Preparation
Some Sandhoff disease tests require fasting, while others do not.Fasting requirementsMayo Clinic: Patients should not eat, drink, smoke, or chew gum f... Read more
Schedule Report
28 Days
Emergency Report
Yes
Frequently Asked Questions
What is Sandhoff disease and which gene is tested? Sandhoff disease is a rare autosomal recessive lysosomal storage disorder caused by biallelic patho... Read more
Test Description
Test Code
MOG389
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