Alpha-1- Antitrypsin genotyping
Sample:
4ml EDTA
Other Comments:
Alpha-1 Antitrypsin deficiency is believed to affect as many as 100,000 people in Northern America and Europe. The deficiency is most common among Caucasians of Northern European descent. In the UK, the incidence is about 1:2000.AAT deficiency causes a lack of alpha-1 antitrypsin level in the blood. In children, AAT deficiency is the most common cause of hereditary liver disease, in adults, it is the most common cause of hereditary emphysema. There are over 59 different AAT alleles identified, although most are very rare. In addition to type M (normal) allele, the two most common abnormal alleles in Caucasians are type S and type Z. Detection of these 3 alleles is carried out by using the Amplification Refractory Mutation System (ARMS) PCR method, which can detect point mutation or small deletion in the DNA sequence. As this test is reflexed based on total A1AT level, analysis will only be performed if informed patient consent. Testing is performed weekly. Testing procedure for AAT genotyping Low A1AT Level (About This Test
Department: Biochemistry
Turnaround Time: 2 weeks
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