Molecular Genetic Testing
Alpha1- Antitrypsin Deficiency ( S and Z mutations)

Indication Diagnostik Value

Alpha1-antitrypsin is an important protease inhibitor (PI*) in the lung. Two common mutations called PI*Z and PI*S can inactivate α-antitrypsin. The disease is caused by the inheritance from both parents of a mutated form of α-antitrypsin. Deficiency results in reduced concentration in bronchoalveolar lavage fluid, liver inclusion, and in obstructive lung disease as the most prevalent clinical manifestation. Deficiency may also contribute to diseases with an immune component. Smoking accelerates appearance of clinical symptoms such as bronchitis or asthma. This genetic test is also been used for prenatal diagnosis. In this case, it is highly recommended to order the test on the parents blood prior to or at the time of the prenatal test.

Samples and Test Method

IMMD blood stain test paper is required.The PCR based test includes an enzymatic cleavage and electrophoretic analysis of DNA fragments harboring the PI - mutations. The specificity is close to 100%.

Turnaround time for this test is 10 days.

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