AAP	American Academy of Pediatrics
AAV	Adeno-associated virus
ACA	Affordable Care Act of 2010
ACHDNC	Advisory Committee on Hereditary Diseases in Newborns and Children (HHS)
ACMG	American College of Medical Genetics
ASO	Antisense Oligonucleotide
BIO	Biotinidase deficiency
CDC	Centers for Disease Control and Prevention (HHS)
cfDNA	Cell-free DNA
ClinGen	The Clinical Genome Resource
CMV	Cytomegalovirus
CLIA	Clinical Laboratory Improvement Amendments
CLIAC	Clinical Laboratory Improvement Advisory Committee
CLIR	Collaborative Laboratory Integrated Reports
CORN	Council of Regional Networks for Genetic Services
CRISPR	Clustered regularly interspaced short palindromic repeats
CRISPR-Cas 9	CRISPR-associated protein 9
DMD	Duchenne muscular dystrophy
EHR	Electronic health record
EPSDT	Early Periodic Screening Diagnosis and Treatment
eRNA	Endless Ribonucleic Acid
ES	Exome sequencing
ExAc	Exome Aggregation Database
FDA	Food and Drug Administration (HHS)
GAL	Galactosemia
GAMT	Guanidinoacetate methyltransferase
GAO	Government Accountability Office
gnomAD	Genome aggregation database
GS	Genome sequencing
HDE	Humanitarian Device Exemption
HHS	US Department of Health and Human Services
HL	Hearing loss
HRSA	Health Resources and Services Administration (HHS)
HCY	Homocystinuria
ICC	Interagency Coordinating Council
IEM	Inborn errors of metabolism
IND	Investigational new drug
IT	Information technology
IOM	Institute of Medicine
LPDR	Longitudinal pediatric data resource
LSD	Lysosomal storage disorder
LTFU	Long-term follow-up
MSUD	Maple Syrup Urine Disease
MIM	Mendelian Inheritance in Man
MPS II	mucopolysaccharidosis type II
mRNA	Messenger Ribonucleic Acid
MS/MS	Tandem mass spectrometry
NBS	Newborn screening
NBSSLA	Newborn Screening Saves Lives Act of 2008
NBSTRN	Newborn Screening Translational Research Network
NCATS	National Center for Advancing Translational Research
NHGRI	National Human Genome Research Institute (NIH)
NICHD	National Institute of Child Health and Human Development (NIH)
NICU	Neonatal intensive care unit
NIH	National Institutes of Health (HHS)
NORD	National Organization for Rare Diseases
NRC/NAS	National Research Council of the National Academy of Sciences
NSIGHT	Newborn Sequencing in Genomic Medicine and Public Health
NSQAP	Newborn Screening Quality Assurance Program (CDC)
ODA	Orphan Drug Act of 1982/83
OMIM	Online Mendelian Inheritance in Man
ORD	Office of Rare Diseases (NIH)
PKU	Phenylketonuria
PPV	Positive predictive value
RDCRN	Rare Disease Clinical Research Network
RUSP	Recommended Uniform Screening Panel (US.)
SCD	Sickle cell disease
SCID	Severe combined immunodeficiency
SF	Secondary findings
siRNA	Small interfering Ribonucleic Acid
SMA	Spinal muscular atrophy
STFU	Short-term follow-up
TREC	T-cell Receptor Excision Circles
VUS	Variant of uncertain significance
X-ALD	X-linked adrenal leukodystrophy