Test Catalog

Test ID: KD2T    
Krabbe Disease Second-Tier Newborn Screen, Blood Spot

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

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

 

Follow-up testing after an abnormal newborn screening result for Krabbe disease

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

This test is used as a second-tier newborn screen for Krabbe disease (galactocerebrosidase deficiency) and includes both psychosine measurement and DNA analysis for the 30-kb deletion.

Highlights

Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disorder caused by an enzyme deficiency of galactocerebrosidase (GALC).

 

Although Krabbe disease is clinically variable, the most common and severe form of the disorder is early infantile onset that presents with rapid neurological regression and results in early death.

 

Second-tier testing reduces the number of false-positive results reported out.

 

Elevations in psychosine or the presence of a homozygous 30-kb deletion of the GALC gene support a diagnosis of Krabbe disease.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Newborn Screen Follow-up for Infantile Krabbe Disease in Special Instructions.

 

For more information, see Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase in Special Instructions.

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

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)/Polymerase Chain Reaction with Gel Electrophoresis

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

Krabbe Disease 2ND Tier NBS, BS

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

B-Galactosidase Galactosylceramide, Leukocytes
Beta-Galactosidase Galactosylceramide, Leukocytes
Cerebroside B-Galactosidase, WBC
Cerebroside Beta-Galactosidase(WBC)
Galactocerebrosidase
Galactocerebrosidase Deficiency
Galactosylceramidase Deficiency
Galactosylceramide
GALC Deficiency
Globoid Cell Leukodystrophy
Krabbe Disease
Krabbe's Disease