NBS Basics
The goal of the program is to identify babies with these disorders early, so that treatment can be started right away.
What is newborn screening?
How many conditions are screened for in CA NBS?
What is over 80?
What year was NBS implemented in California?
What is 1966?
What does NBS identify?
What is rare, treatable genetic disorders?
This technique is used in NBS to detect a variety of disorders by measuring biomarkers simultaneously.
What is high-throughput tandem mass spectrometry?
The best location to draw blood for NBS
What is the heel?
What genetic sequencing technology is used to confirm a screen-positive result on NBS?
What is Next Generation Sequencing
Baby's screening showed an increase chance of having one or more conditions on NBS
What is screen positive?
What was the first disorder to be added to NBS?
What is PKU?
A ___ test helps confirm or rule out a medical condition in an individual.
What is diagnostic testing?
12-48 hours
What is the timeframe to collect blood from the newborn's heel?
When someone's condition is due to both of their copies of a gene not working properly.
What is autosomal recessive?
____ is how well a test can identify true positives.
What is sensitivity?
What are the two newest conditions that were added to NBS in 2024?
What are GAMT and MPS II?
What is the term for disorders that can be detected in the differential diagnosis of a condition on NBS?
What is a secondary condition?
Blood test, pulse ox, hearing test
What are the three parts to newborn screening?
Which condition screened on NBS is linked with increased risk of pregnancy loss when not following a low-phenylalanine diet?
What is phenylketonuria (PKU)?
___ is how well a test can identify true negatives.
What is specificity?
What is a disorder detected on NBS that primarily causes problems in the lungs, pancreas, and GI tract.
$225 is the cost for?
What is the cost for NBS?
What are the 7 core condition categories that NBS can identify?
What are organic acid disorders, fatty acid oxidation disorders, amino acid disorders, hemoglobin disorders, other disorders, congenital heart disease, hearing loss
This type of genetic testing is performed on family members of someone diagnosed with a genetic condition to see if they are carriers or affected by the same condition.
What is cascade genetic testing?
What is the rate of babies born in CA that have a rare, but treatable genetic condition?
What is 1 in 600?
What are the two conditions on the NBS that are caused solely by an X-linked inheritance pattern?
What are mucopolysaccharidosis type II (MPS II) and X-linked adrenoleukodystrophy (X-ALD)?
12 specimens pertains to what in the specimen shipping process?
What is the maximum number of specimens in one envelope?