Test ID: HURLS
Hurler Syndrome, Full Gene Analysis
NY State Approved 
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Conditional
Useful For Suggests clinical disorders or settings where the test may be helpful
Identifying mutations 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 mutations have not been previously identified
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Testing includes full gene sequencing of the IDUA gene.
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FBC | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm Delineates situation(s) 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 added and charged separately.
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
Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Hurler Syndrome, Full Gene Analysis
Aliases Lists additional common names for a test, as an aid in searching
Hurler
Scheie
Hurler-Scheie
MPS-I
Mucopolsaccharidosis
Mucopolysaccaridosis Type I
Alpha-L-iduronidase
Scheie
Hurler-Scheie
MPS-I
Mucopolsaccharidosis
Mucopolysaccaridosis Type I
Alpha-L-iduronidase
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