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Alpha 1 Antitrypsin Genotyping

Ordering Info & Methodology

Test Code

Cerner Synonyms


Alpha 1 Antitrypsin Genotyping, A1AT genotype, A1AT phenotype

Turn Around Time


30 days

RT-PCR melting curve analysis

Ordering Guide

Specimen Requirements

Sample Type

Collection Container

Alternate Collection Containers

Serum and Whole Blood EDTA

Red and Lavender - Both tubes required

3 mL

Add on stability
This is the length of time after sample collection that this analyte is stable. Test can be added to a previously collected sample if the time since collection is less than the add on stability time.

Minimum Volume

Add On Stability

Collection and Shipping Requirements

Referring Labs: Aliquot and freeze: 1 mL red top serum for phenotype and 1 unopened lavender tube for genotyping. Send on dry ice.

Reference Intervals

Female Reference Interval

Age Category
Reference Interval

Male Reference Interval

Age Category
Reference Interval
Additional Notes

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Measurement Uncertainty (MU)
Every laboratory value is an estimate of the true concentration of substance. MU is the 95% confidence interval around that estimate. 95% of the time, the true concentration will be within the range of the reported value ±MU. This value is based on analytical variability (precision) and does not reflect other factors such as sample collection and handling which may also affect the result.


Reported sodium = 140 mmol/L
Sodium MU = 1%
Expanded uncertainty = 140 mmol/L ± 1% or 140mmol/L ± 1.4 mmol/L
Interpretation - the true value of sodium in the sample is in the range 138.6-141.4 mmol/L, with 95% confidence.

Measurement Uncertainty

Requires approval. Generally approved only if serum A1AT level is <1.2 g/L.

Panel AATGPP includes A1AT genotyping by melting curve analysis. Will be reflexed to phenotype analysis by isoelectric focusing and/or genotype analysis by sequencing if intial genotype result is discordant with A1AT level or clinical presentation.

Ordering, Shipping, and Interpretation Information

Final_BC Laboratory Testing Instructions for AAT deficiency testing 2019
Download PDF • 35KB


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