Tay-Sachs Disease Carrier Testing (Serum)
Hexosaminidase A Deficiency | Chronic and Adult-Onset Hexosaminidase A Deficiency | Juvenile (Subacute) Hexosaminidase A Deficiency | GM2 Gangliosidoses (Hexosaminidase A-Deficient) | HEX A Deficiency
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| Test Information: |
This test is provided for the purpose of carrier screening for Tay Sachs disease. For individuals of Ashkenazi Jewish descent, DNA analysis (#6003) Ashkenazic Disease Screening Panel with enzymatic testing is recommended. |
| Test Details |
| Test Code: |
4617 |
| Special Notes: |
This serum test cannot be performed on pregnant women. For pregnant women, (#4620) WBC Tay Sachs Carrier Testing without enzymatic testing is recommended for Tay Sachs testing.
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| Technical Information |
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| Methodology: |
Fluorimetric |
| Gene Name: |
HEXA, HEXB |
| Protein Name: |
Beta-hexosaminidase subunit alpha, Beta-hexosaminidase subunit beta |
| Test Type: |
Enzyme Analysis |
| References Values or Ranges: |
Ranges are available on report. |
