Test Catalog

Test ID: NBSE    
Newborn Screening Expanded Panel, Blood Spot

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

An expanded panel for presymptomatic identification of disorders 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) plus 4 additional lysosomal storage disorders (Krabbe disease, Fabry disease, Gaucher disease, and Niemann-Pick types A and B), glucose-6-phosphate dehydrogenase (G6PD) deficiency, guanidinoacetate methyltransferase (GAMT), and spinal muscular atrophy (SMA) that can be identified by analysis of dried blood spots. See table in Clinical Information for a 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 algorithms are available in Special Instructions:

-Newborn Screen Follow-up for Gaucher Disease

-Newborn Screen Follow-up for Glucose-6-Phosphate Dehydrogenase (G-6-PD) Deficiency

-Newborn Screen Follow-up for Guanidinoacetate Methyltransferase Deficiency (GAMT)

-Newborn Screen Follow-up for Mucopolysaccharidosis Type I

-Newborn Screen Follow-up for Niemann Pick Type A and B

-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


For more information, see the following Newborn Screening ACT Sheets in Special Instructions:

-Newborn Screening Act Sheet Fabry Disease: Decreased Alpha-Galactosidase A

-Newborn Screening Act Sheet Gaucher Disease: Decreased Acid Beta-Glucosidase

-Newborn Screening Act Sheet Glucose-6-Phosphate Dehydrogenase Deficiency

-Newborn Screening Act Sheet Guanidinoacetate Methyltransferase Deficiency: Increased Guanidinoacetate

-Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase

-Newborn Screening Act Sheet Mucopolysaccharidosis Type I: Decreased Alpha-L-Iduronidase

-Newborn Screening Act Sheet Niemann-Pick A/B Disease: Decreased Acid Sphingomyelinase

-Newborn Screening Act Sheet Pompe Disease: Decreased Acid Alpha-Glucosidase

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

-Newborn Screening Act Sheet X-Linked Adrenoleukodystrophy: Increased Very Long Chain Fatty Acids

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 Expanded Panel, BS

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

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