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

Test Catalog

Test Name

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 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.

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

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

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

Conditional

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

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