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Test Code: A1At Preferred Name Alpha-1-antitrypsin

No
N/A
Weekdays
1 weekday
Medicare Item
N/A

Test Tubes

ImageSpecimen TypeSpecimen VolumeTube Type
Blood (adult)4 mLSST with gel 8.5 mL (Dark Yellow Top)
Blood (paed, Neonatal)600 uLSST with gel 600 uL Paed (Red or Yellow top)

COLLECTION NOTES

--No collection notes--

GENERAL NOTES



APPLICATION:  Detection of hereditary A1AT deficiency.  Investigation of early onset emphysema; neonatal hepatits; juvenile cirrhosis; pannicultis.

INTERPRETATION:  Alpha-1-antitrypsin deficiency is associated with early onset emphysema, hepatitis and cirrohosis and with panniculitis.  If deficiency is documented, phenotyping should be done on proband and family.  Levels of alpha-1-antitrypsin are increased in an acute phase response and this may mask a deficiency state.  If there is a high clinical suspicion of A1AT deficiency, phenotyping should be performed, regardless of the A1AT level.  Genetic variants with at least 100 alleles have been described; genotyping is currently available for 2 phenotypes associated with disease: S and Z.  Genotyping distinguishes ZZ from Z null or SS from S null patients without the need for family studies.

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