Alpha 1 antitrypsin deficiency (AATD) can present with liver dysfunction in individuals from infancy to adulthood, and more infamously with chronic obstructive pulmonary disease COPD), usually when over 30 years of age. Individuals with AATD are also at increased risk for panniculitis (migratory, inflammatory, tender skin nodules which may ulcerate on legs and lower abdomen) and C-ANCA-positive vasculitis (granulomatosis with polyangiitis). For diagnosis of AATD, testing for the serum level of AAT is also required.
This test will tell you whether you have one or two abnormal genes controlling the production of alpha 1 antitrypsin. This test is only needed therefore if the serum level of alpha 1 antitrypsin has been already tested and confirmed to be low.
This confidential blood assay for Alpha 1 Antitrypsin genotype is offered at all of the thirty two private clinics across England, Scotland and Wales.
Included in every test request for Alpha 1 antitrypsin genotype are a Doctors Referral, all Phlebotomy fees (your blood is taken at a Private Hospital), all laboratory fees, and our doctor's comments.
Inclusions: pi*S and pi*Z variants/alleles of the AAT gene.
Special Instructions: No Special Instructions.
Attendance Restrictions: No Special Attendance Restrictions.
Laboratory Notes: Assay Dependent
Sample Container: 1 x Lavender
Fasting: If fasting is required, it will be explained on your Pathology Passport. 8 hours fasting is sufficient when it is required.