Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: MPS1Z
Hurler Syndrome, Full Gene Analysis, Varies
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 ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FIBR | Fibroblast Culture | Yes | No |
| CRYOB | Cryopreserve for Biochem Studies | No | No |
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 and cryopreservation for biochemical studies 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
- Molecular Genetics: Biochemical Disorders Patient Information
- Informed Consent for Genetic Testing
- Blood Spot Collection Card-Spanish Instructions
- Newborn Screening Act Sheet Mucopolysaccharidoses Type I: Decreased Alpha-L-Iduronidase
- Newborn Screen Follow-up for Mucopolysaccharidosis Type I
- Blood Spot Collection Card-Chinese Instructions
- Informed Consent for Genetic Testing (Spanish)
- Lysosomal Storage Disorders Diagnostic Algorithm, Part 1
- Blood Spot Collection Instructions
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.
Reporting Name Lists a shorter or abbreviated version of the Published Name for a test
Aliases Lists additional common names for a test, as an aid in searching
Hurler
Hurler-Scheie
MPS-I
Mucopolsaccharidosis
Mucopolysaccaridosis Type I
Scheie
HURLS
MPS1
IDUA