National Jewish Health researchers with the Advanced Diagnostic Laboratories have developed a molecular diagnostic test ...

A typical focus of medical resequencing projects is the detection of rare SNPs or individual mutations ... the single heterozygote is missed, the SNP is not discovered. For common SNPs, missing ...

The novel 23-SNP alpha-1 antitrypsin (AAT ... speed and precision of AATD diagnosis by identifying multiple genetic mutations associated with the disease. The test addresses a long-standing ...