Alpha-1-antitrypsin (genotyping)
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About This Test
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Department: Biochemistry Requirement: EDTA (purple top) Dedicated sample required. Please ensure sample reaches the laboratory within 72 hours. Add-on requests are not possible for this test.
Turnaround Time: 4 - 6 weeks |
Background:
Testing for the alpha-1-antitrypsin (AAT) S and Z variants.
Used in follow up to a low serum AAT level (when investigating lung or liver disease) or in those with a family history of AAT deficiency caused by the S or Z variants.
Genotyping will only normally be performed on those with a low serum AAT result, or when there is a clear family history. For predictive (family history) referrals, please provide details of the affected relative (including precise genetic defect identified).
NOTE: Inappropriate requests for genetic tests may be rejected by the laboratory. Please provide as much relevant clinical details as possible. Rejected samples will be stored in the laboratory for two months.
For more information please contact Dr Chris Duff, Consultant Clinical Scientist.