Test Catalog

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 genetic test or proper submission of the test request

This test includes all disorders comprising the Recommended Uniform Screening Panel (RUSP) that can be identified by analysis of dried blood spots. See table in Clinical Information for complete list of primary and secondary target conditions.

Testing Algorithm Delineates situations 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 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 Spinal Muscular Atrophy

-Newborn Screen Follow-up for X-Linked Adrenoleukodystrophy

-Newborn Screening Act Sheet Spinal Muscular Atrophy: Zero Functioning Copies of SMN1

Special Instructions Library of PDFs including pertinent information and forms related to the 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 Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

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