Researchers at National Jewish Health have developed an advanced molecular test that significantly improves the diagnosis of Alpha-1 Antitrypsin Deficiency (AATD), a genetic cause of chronic obstructive pulmonary disease (COPD). Published in CHEST Pulmonary, this innovative 23-SNP assay detects multiple genetic mutations linked to AATD, addressing long-standing challenges in accurate and timely diagnosis.
AATD is a genetic disorder where the body produces insufficient levels of a protective protein, leading to lung and liver complications. Unlike typical COPD, which is often caused by environmental factors like smoking, AATD is inherited and affects approximately 1 in 3,000 to 1 in 5,000 individuals in the U.S., with an estimated 100,000 Americans impacted, many undiagnosed.
The new test, validated using 373 biological samples, identifies 20 pathogenic mutations in the SERPINA1 gene, along with normal and less common variants. It achieved 100% accuracy in detecting abnormal mutations, outperforming traditional methods like isoelectric focusing gel, which only detects S and Z alleles.
“AATD is widely underdiagnosed, leading to delays in treatment that can worsen disease outcomes,” said Dr. Yongbao Wang, lead researcher. “Our test provides an accurate, comprehensive, and rapid genotyping solution for frontline diagnosis.”
Dr. Sharon Kuss-Duerkop added, “With quicker and more reliable results, we can diagnose AATD earlier and start treatments to prevent severe complications.”
The 23-SNP AAT assay, already in use at National Jewish Health since 2022, marks a significant advancement in genetic testing for AATD. By enabling earlier detection and potential newborn screening, this test could transform patient outcomes and reduce the burden of undiagnosed cases. Clinicians can access the test through National Jewish Health Advanced Diagnostic Laboratories.
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