CDC's Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA) was added to the HHS Secretary's Recommended Uniform Screening Panel for newborn screening (NBS) in 2018, enabling early diagnosis and treatment of impacted infants to prevent irreversible motor neuron damage. In anticipation of supporting SMA newborn screening, scientists at the U.S.

MALDI-TOF-MS Assay to Detect the Hemizygous 22q11.2 Deletion in DNA from Dried Blood Spots.

Background: A hemizygous deletion of 1.5-3 Mb in 22q11.2 causes a distinct clinical syndrome with variable congenital defects.

Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.

Background: Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases. Newborn blood spot screening (NBS) to detect severe combined immunodeficiency (SCID) has been implemented in public health laboratories in the last 5 years.

High carrier prevalence of combinatorial CYP2C9 and VKORC1 genotypes affecting warfarin dosing.

Background: Polymorphisms in the cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase complex subunit 1 (VKORC1) genes significantly alter the effective warfarin dose. The CYP2C9*2 (430C>T), CYP2C9*3 (1075A>C) and VKORC1 -1639 G>A polymorphisms affect warfarin dose through altered metabolism (CYP2C9) and sensitivity (VKORC1).

Objective: We determined the frequencies of SNPs in the CYP2C9 and VKORC1 genes in a clinical outpatient population and the carrier prevalences for a variety of genotype combinations to gauge the impact of these polymorphisms on warfarin dosage using published algorithms.