Requestor | Title of Study | Purpose | Description of blood spots and/or data requested and approved | Date Approved |
Asuragen | Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) assay development | To develop a Cystic Fibrosis screening and diagnostic test based on Polymerase Chain Reaction and Capillary Electrophoresis (PCR/CE) technology that accurately resolves different CFTR mutations. | 37 de-identified blood spots that tested positive for Cystic Fibrosis and 30 de-identified blood spots that tested normal for Cystic Fibrosis. | 12/30/2020 |
National Cancer Institute and Texas Department of State Health Services | T-cell receptor excision circles (TRECs) and risk of pediatric cancer | To assess the association between the levels of T-cell receptor excision circles (TREC) at birth and cancer risk. | 1500 cases along with five controls per case. Unidentified data with TREC level, diagnosis of severe combined immunodeficiency (SCID) or any other immune conditions. | 10/24/2020 |
Washington State University Department of Pharmacotherapy | Bloodspot GABA (4-aminobutyric acid) for identifying disorders of GABA metabolism | To develop a screening method to detect GABA (4-aminobutyric acid) in newborn dried blood spots | 7000 de-identified blood spots | 2/2/2018 |
Center for Applied Genomics, the Children's Hospital
of Philadelphia | Testing DNA extraction protocol on external dried
blood spot samples of neonates | To evaluate the quality and quantity of the DNA
extracted from various dried blood spot collections and to improve upon the
ability to positively impact our understanding of pediatric health and disease
through genomics by developing and validating an automated protocol to
efficiently extract DNA in large batches from dried blood spot collections. | 20 de-identified blood spots and associate
non-identifying demographic data | 3/2/2017 |
PerkinElmer, Inc. | Multi-Center Evaluation of NeoLSD MSMS Kit 3093-001U | To demonstrate that the device performance is safe and
effective when used for the stated intended use and that the use of this device
will be beneficial for affected newborns by providing early identification of
Lysosomal Storage Disorders (LSD). | De-identified analytical result data, date of specimen
collection, birthweight, gender, and ethnicity for 55,000 specimens. | 1/10/2017 |
Texas Department of State Health Services
and University of New Mexico | Feasibility of Estimating Prenatal Alcohol Exposure from Residual Newborn Screening Specimens | To ascertain the feasibility of assessing PEth
biomarker, as a measure of prenatal alcohol exposure, in residual dried blood
spot cards. | 1,100 de-identified blood spots and associated
non-identifying demographic data | 11/20/2014 |
PerkinElmer, Inc. | Study to Establish Screening Performance for EnLite
Neonatal TREC Test System | To validate a new diagnostic method for newborn
screening. The study results are needed to get permission to place the product
on the market and made available for the newborn screening community in USA. | None - Request cancelled after approved. | 3/28/2014 |
Texas Department of State Health Services and ARUP
Laboratories | Evaluation and Implementation of Second-Tier Testing
for Disorders Identified by MS/MS in Newborn Blood Spots in the Mountain States
Region | To evaluate 1) the efficacy of performing second tier
newborn screening tests for congenital adrenal hyperplasia and select metabolic
disorders detected by tandem mass spectrometry and 2) the efficacy of
establishing a regional laboratory to perform these second-tier tests. | 342 De-identified blood spots | 4/5/2010 |