NBSR - Overview: Newborn Screen Recommended Panel, Blood Spot

Test Catalog

Test Name

Test ID: NBSR    
Newborn Screen Recommended Panel, Blood Spot

Useful For Suggests clinical disorders or settings where the test may be helpful

Presymptomatic identification of Recommended Uniform Screening Panel (RUSP) disorders only to allow for early initiation of treatment and consequent improvement in the long-term prognosis of affected patients

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

This test includes all disorders comprising the Recommended Universal Screening Panel (RUSP). See table in Clinical Information for complete list of primary and secondary target conditions.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

First-tier results will be reviewed and second-tier screening performed at consultant discretion at no additional charge. This minimizes the false-positive rate and maximizes the positive predictive value of screening.

 

The following algorithms are available in Special Instructions:

-Newborn Screen Follow-up for Mucopolysaccharidosis Type I

-Newborn Screen Follow-up for Pompe Disease

-Newborn Screen Follow-up for Severe Combined Immunodeficiency Syndrome (SCID)

-Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Flow Injection Analysis-Tandem Mass Spectrometry (MS/MS)/Immunoassay/Capillary Electrophoresis/Colorimetry/Fluorometry/Digital droplet Polymerase Chain Reaction (ddPCR)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

No

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Newborn Scrn Recommended Panel, BS

Aliases Lists additional common names for a test, as an aid in searching

RUSP Newborn Screen
Newborn Screening
Newborn Screen
Expanded Newborn Screen, Blood Spot
Blood Spots