Accessibility links
|
|
Alpha1 - antitrypsin Phenotype
(a.k.a A1ATphenotype)
minimum sample volume required ~ 5ml
Test Code: AAP
Tube type: SST
Special instructions
None
Sent away
to Southmead Hospital
Reference range
Normal Phenotype = MM
Linked to
A1AT
Turnaround Time
28
days
Department: Biochemistry
Clinical Application
There are over 75 distinct variants of AAT designated as Pi plus letters from B to Z in order of decreasing electrophoretic mobility. Several of the variants are associated with reduced plasma levels of AAT. PiZ is clinically the most important deficiency variant. Phenotyping is performed by iso-electric focusing. NOTE: Abnormal phenotypes of known clinical significance (e.g. ZZ) should be confirmed by genotyping: the laboratory may request that you send a further sample for this (as it requires an EDTA sample)
Links:
» MedlinePlus Medical Encyclopedia: Alpha-1 antitrypsin deficiency
