A genetic disorder can only be confirmed through genetic testing1
Range of serum AAT levels by phenotype (uM)
Since alpha1 antitrypsin is an acute-phase reactant, serum levels alone can be misleading and are not a complete diagnosis. A genotype test is therefore recommended along with a serum level test.2,3
Of more than 500,000 patients tested through an independent, certified laboratory, >15% (76,634) were positive for a deficient allele.1
An alpha-1 family tree
Model based on an actual family tested for alpha-13
Any deficient allele should prompt an immediate discussion of testing the whole family.4
Patients with alpha-1 with at least one deficient allele have a genetic susceptibility to lung disease. Early testing is essential so that family members—if tested positive for alpha-1-may utilize disease-management programs to potentially improve patient outcomes.3,4
Detecting patients with deficient alleles is crucial
- AlphaID™ is free and makes it easy to screen for alpha-1
- A simple cheek swab sample provides 100% accurate and reliable genotyping results3,5
I think one of the problems is that [alpha-1] is such a rare disorder, at least it's considered a rare disorder. I know now, as an expert in alpha1-antitrypsin deficiency, it's not really rare, it's just rarely thought of, or rarely tested.
The only way to know [if a person has alpha-1] is by screening. You know, [patients with alpha-1] look the same. They walk the same. They cough the same. They have all the same symptoms as your other patients with COPD. The only way to know is by screening.