Eurofins Biomnis code

A1BM

Synonyms

• OMIM code : #613490 / *107400
• Pi - Protease inhibitor - genotyping
• Genotyping of S and Z alpha-1-antitrypsin variants
• p.Glu264Val mutation and p.Glu342Lys mutation

Clinic significance

Alpha-1-antitrypsin (A1AT) is an inflammatory glycoprotein which serves to limit the amount of cell damage and death at the focus of the reaction. A set of different isoenzymes exist which constitute the Pi (Protease inhibitor) system and which can be distinguished on the basis of isoelectric focusing. Phenotype M is the most common and certain variants (S and to an even greater extent Z) are associated with A1AT deficiency which can lead to the development of panacinar emphysema and liver disease.

Prenalytics

• 5 mL
• 5 mL total blood EDTA : refrigerated, 1 mL serum : refrigerated

Further information

• Sample must be refrigerated if transport is > 48 hours
• According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
• Enclose the specific B12-INTGB request form: Molecular Genetics

Documents to download

• Specific Request Form (B12-INTGB)

Methodology

PCR-RFLP

Turnaround time

18 days