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:
Reference Biochemistry Department at King's College Hospital
020 3299 4107
King's College Hospital
Denmark Hill
London SE5 9RS
Denmark Hill
London SE5 9RS
Immunochemistry Laboratory at King's College Hospital
020 3299 4130
King's College Hospital
Denmark Hill
London SE5 9RS
Denmark Hill
London SE5 9RS
Laboratory:
Last updated: 07/08/2015