Test Catalog

Test ID: SCDT2    
Severe Combined Immunodeficiency Syndrome (SCID) Newborn Screening, Blood Spot

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

First-tier severe combined immunodeficiency syndrome (SCID) newborn screening

 

Second-tier testing of newborns with an abnormal screening result for SCID

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

This test detects severe combined immunodeficiency syndrome (SCID) by measuring T-cell receptor excision circle (TREC) levels in dried-blood spots.

Highlights

This test provides absolute T-cell receptor excision circle (TREC) quantitation from dried blood spots for evaluating a potential diagnosis of severe combined immunodeficiency syndrome (SCID) or leaky SCID, or secondary conditions of T-cell lymphopenia.

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

Droplet Digital Polymerase Chain Reaction (ddPCR)

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

Yes

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

SCID NBS, 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
T-Cell Receptor Excision Circles (TREC)
TREC (T-Cell Receptor Excision Circles)
Severe combined immunodeficiencies (SCID)
Typical SCID
Leaky SCID
Omenn syndrome
DiGeorge syndrome
T-cell lymphopenia
Thymus