Catalog ID | Description | Percent Normal Activity | Specimen Assayed | Remark |
GM00077 | TAY-SACHS DISEASE; TSD | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM00203 | SANDHOFF DISEASE | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM00221 | TAY-SACHS DISEASE; TSD | | b-N-acetylhexosaminidase; hexosaminidase; b-acetylaminodeoxyhexosidase; N-acetyl-b-D-hexosaminidase; N-acetyl-beta-hexosaminidase; b-hexosaminidase; b-acetylhexosaminidinase; b-D-N-acetylhexosaminidase; b-N-acetyl-D-hexosaminidase; b-N-acetylglucosaminida | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM00294 | SANDHOFF DISEASE | 0.5 | fibroblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM00317 | SANDHOFF DISEASE | 0.3 | fibroblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM00502 | TAY-SACHS DISEASE; TSD | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM00514 | TAY-SACHS DISEASE; TSD | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM00515 | TAY-SACHS DISEASE; TSD | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM00527 | TAY-SACHS DISEASE; TSD | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM02094 | SANDHOFF DISEASE | 3 | fibroblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM02968 | TAY-SACHS DISEASE; TSD | 0 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM03441 | TAY-SACHS DISEASE; TSD | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM03461 | TAY-SACHS DISEASE; TSD | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM03575 | TAY-SACHS DISEASE; TSD | | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM03585 | TAY-SACHS DISEASE; TSD | 5 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM03586 | TAY-SACHS DISEASE; TSD | 8 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM03770 | TAY-SACHS DISEASE; TSD | | lymphoblasts/WBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM03771 | TAY-SACHS DISEASE; TSD | | lymphoblasts/WBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM03772 | TAY-SACHS DISEASE; TSD | | lymphoblasts/WBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM03773 | TAY-SACHS DISEASE; TSD | | lymphoblasts/WBCs | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM09787 | TAY-SACHS DISEASE; TSD | 0 | | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM10718 | SANDHOFF DISEASE | | plasma/WBCs | According to the submitter, biochemical test results for this subject showed increased enzyme activity. |
GM10719 | SANDHOFF DISEASE | | plasma/WBCs | According to the submitter, biochemical test results for this subject showed increased enzyme activity. |
GM11098 | SANDHOFF DISEASE | | fibroblasts | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM11707 | SANDHOFF DISEASE | | fibroblasts/WBCs/plasma | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM11852 | TAY-SACHS DISEASE; TSD | | blood | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |
GM11853 | TAY-SACHS DISEASE; TSD | | blood | According to the submitter, biochemical test results for this subject showed decreased enzyme activity. |