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Tay-Sachs Rules Engine logic (Panel part abnormality type = Non-carrier…
Tay-Sachs Rules Engine logic
Panel part abnormality type = Carrier by enzyme
HEXA result = Carrier
HEXA mutation type = pseudodeficiency
HEXA mutation type <> pseudodeficiency
HEXA result = No mutation detected
Panel part abnormality type = Inconclusive
HEXA result = Carrier
HEXA mutation type = pseudodeficiency
HEXA mutation type <> pseudodeficiency
HEXA result = No mutation detected
Panel part abnormality type = Non-carrier
HEXA result = Carrier
HEXA mutation type <> pseudodeficiency
HEXA mutation type = pseudodeficiency
HEXB result = Carrier
HEXB mutation type <> pseudodeficiency
HEXB mutation type = pseudodeficiency
HEXA and HEXB results = No mutation detected
Panel part abnormality type = Possible Sandhoff Carrier
HEXB result = Carrier
HEXB mutation type = pseudodeficiency
HEXB mutation type <> pseudodeficiency
HEXB result = No mutation detected