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Test ID: MPS1Z    
Hurler Syndrome, Full Gene Analysis, Varies

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

Identifying variants within the IDUA gene

 

Confirmation of a diagnosis of mucopolysaccharidosis type I (MPS-I)

 

Carrier testing when there is a family history of MPS- I, but disease-causing variants have not been previously identified

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

Testing includes full gene sequencing of the IDUA gene.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo

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

If skin biopsy is received, fibroblast culture for genetic test will be performed at an additional charge.

 

The following algorithms are available in Special Instructions:

-Lysosomal Storage Disorders Diagnostic Algorithm, Part 1

-Newborn Screen Follow-up for Mucopolysaccharidosis Type I

 

For more information, see Newborn Screening Act Sheet Mucopolysaccharidosis Type I: Decreased Alpha-L-Iduronidase 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

Polymerase Chain Reaction (PCR) followed by DNA Sequencing

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

Hurler Syndrome, Full Gene Analysis

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

Alpha-L-iduronidase
Hurler
Hurler-Scheie
MPS-I
Mucopolsaccharidosis
Mucopolysaccaridosis Type I
Scheie
HURLS
MPS1
IDUA