Alpha-1 Antitrypsin - Phenotype
Description:
Phenotyping is performed primarily:
a) To detect neonates with liver disease due to PiZZ; this is clinically similar to that caused by biliary atresia, which may require urgent surgical intervention.
b) To detect AAT deficiency in older patients with lung disease.
c) Family studies with a view to pre-natal diagnosis (in conjunction with genotyping).
a) To detect neonates with liver disease due to PiZZ; this is clinically similar to that caused by biliary atresia, which may require urgent surgical intervention.
b) To detect AAT deficiency in older patients with lung disease.
c) Family studies with a view to pre-natal diagnosis (in conjunction with genotyping).
Reference range:
N/A
Synonyms or keywords:
AAT, A1AT, Alpha -1 Antitrypsin Phenotype.
Units:
N/A
Department:
Location:
Sample type and Volume required:
Plasma (EDTA) or Serum (SST).
Turnaround time:
14 working days.
Storage and transport:
1st class post.
Contacts:
For clinical advice or interpretation of results, please contact the laboratory in the first instance.
Last updated: 07/08/2015
