Alpha-1 antitrypsin (AAT) testing is used to help diagnose alpha-1 antitrypsin deficiency as the cause of early onset emphysema or chronic obstructive pulmonary disease (COPD) when a person does not have obvious risk factors such as smoking or exposure to lung irritants such as dust and fumes. It may also be used when someone has asthma that obstructs his or her breathing, even after treatment.Testing is also used to help diagnose the cause of persistent jaundice and other signs of unexplained liver injury. This is done primarily in infants and young children but may be done in people of any age.Testing may also be used to help determine whether a person who has a family history of alpha-1 antitrypsin deficiency has one or two copies of the SERPINA1 gene.Three types of AAT tests are commonly available. One or more of these may be used to evaluate an individual:Alpha-1 antitrypsin measures the level of the protein AAT in blood.Alpha-1 antitrypsin phenotype testing evaluates the amount and type of AAT being produced and compares it to normal patterns.Alpha-1 antitrypsin genotype testing (DNA testing) can be used to establish which SERPINA1 gene alleles are present, including the normal wild type M allele or variant alleles. This test does not identify every variant, but it will detect the most common ones (S and Z) as well as variants that may be common in a particular geographical area or family. Once the affected person's SERPINA1 gene alleles have been identified, other family members may be tested to establish their own risk of developing emphysema and/or liver involvement as well as the likelihood that their children might inherit the disease.Gene sequencing is uncommon for AAT but may be necessary to identify rare alleles and obtain an accurate diagnosis.
Sample Type - Blood
Reporting Time - 3 Hrs
Prerequisties - No special preparation required
Price - Rs 2410/-
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