Total β-hexosaminidase

Sandhoff disease

Chemical Pathology - Enzyme

For the diagnosis of Sandhoff disease and variants (diseases resulting from mutations in the HEXB gene associated with a deficiency of HexA and HexB). The two major isoenzymes of lysosomal β-N-acetyl hexosaminidase – namely hexosaminidase A (HexA) and hexosaminidase B (HexB) – are assayed in plasma, leucocytes, cultured cells and tissues and found to be deficient in cases of Sandhoff disease

1. 5 - 10 mL lithium heparin whole blood or

2. Cultured fibroblasts or

3. Chorionic villi or

4. Cultured chorionic villi or

5. Cultured amniotic cells or

6. Amniotic fluid

1. Send whole blood at ambient room temperature to reach the lab ideally within 24 hours of collection

2. Send flask completely filled with medium at room temperature a in well insulated container. To reach lab ideally within 24 hours

3. Contact the Enzyme Laboratory PRIOR to sampling and shipping

4. Contact the Enzyme Laboratory PRIOR to sampling and shipping

5. Contact the Enzyme Laboratory PRIOR to sampling and shipping

6. Contact the Enzyme Laboratory PRIOR to sampling and shipping

1. 4 to 6 weeks

2. 4 to 6 weeks

3. As soon as practically possible

4. As soon as practically possible

5. As soon as practically possible

6. As soon as practically possible

Beta-hexosaminidase-beta-subunit deficiency, GM2 gangliosidosis type 2, GM2 gangliosidosis II Hexosaminidase A and B deficiency disease, Sandhoff-Jatzkewitz-Pilz disease, Total hexosaminidase deficiency

1. Yes

2. Yes

3. Yes

4. Yes

5. Yes

6. Yes