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HelpTest ID MPS2Z Hunter Syndrome, Full Gene Analysis, Varies
Useful For
Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome)
Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously identified
Genetics Test Information
Testing includes full gene sequencing of the IDS gene.
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FIBR | Fibroblast Culture | Yes | No |
| CRYOB | Cryopreserve for Biochem Studies | No | No |
Testing Algorithm
If a skin biopsy is received, fibroblast culture and cryopreservation for biochemical studies will be performed at an additional charge.
See Lysosomal Storage Disorders Diagnostic Algorithm, Part 1 in Special Instructions.
Method Name
Polymerase Chain Reaction (PCR) followed by DNA Sequencing
Reporting Name
Hunter Syndrome, Full Gene AnalysisSpecimen Type
VariesOrdering Guidance
First-tier testing for mucopolysaccharidosis type II is available. Order either I2SW / Iduronate-2-Sulfatase, Whole Blood or I2SBS / Iduronate-2-Sulfatase, Blood Spot. Be aware that these tests are not reliable for carrier testing.
For diagnostic testing or monitoring ongoing therapy, order MPSBS / Mucopolysaccharidosis, Blood Spot.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Type: Cultured fibroblasts
Container/Tube: T-75 or T-25 flask
Specimen Volume: 1 Full T-75 flask or 2 full T-25 flasks
Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours
Specimen Type: Skin biopsy
Supplies: Fibroblast Biopsy Transport Media (T115)
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Specimen Type: Blood spot
Supplies: Card - Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Collection card (Whatman Protein Saver 903 Paper)
Acceptable: Ahlstrom 226 filter paper, or Blood Spot Collection Card
Specimen Volume: 2 to 5 Blood Spots on collection card
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year of age is finger stick.
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.
Specimen Minimum Volume
Blood: 1 mL
Blood Spots: 5 punches, 3-mm diameter
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
14 to 20 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81405-IDS (iduronate 2-sulfatase) (eg, mucopolysacchridosis, type II), full gene sequence
88233-Tissue culture, skin, or solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MPS2Z | Hunter Syndrome, Full Gene Analysis | 76030-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 53526 | Result Summary | 50397-9 |
| 53527 | Result | 82939-0 |
| 53528 | Interpretation | 69047-9 |
| 53529 | Additional Information | 48767-8 |
| 53530 | Specimen | 31208-2 |
| 53531 | Source | 31208-2 |
| 53532 | Released By | 18771-6 |
NY State Approved
YesSpecial Instructions
- Molecular Genetics: Biochemical Disorders Patient Information
- Informed Consent for Genetic Testing
- Blood Spot Collection Card-Spanish Instructions
- Blood Spot Collection Card-Chinese Instructions
- Informed Consent for Genetic Testing (Spanish)
- Lysosomal Storage Disorders Diagnostic Algorithm, Part 1
- Blood Spot Collection Instructions
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions