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HelpTest ID HEXBZ Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies
Ordering Guidance
The recommended first-tier test for Sandhoff disease is hexosaminidase A and total testing in serum (NAGS / Hexosaminidase A and Total Hexosaminidase, Serum) or leukocytes (NAGW / Hexosaminidase A and Total Hexosaminidase, Leukocytes).
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.
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
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
Useful For
Follow up for abnormal biochemical results suggestive of Sandhoff disease
Establishing a molecular diagnosis for patients with Sandhoff disease
Identifying variants within genes known to be associated with Sandhoff disease, allowing for predictive testing of at-risk family members
Genetics Test Information
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for Sandhoff disease.
Additional first tier testing may be considered/recommended. For more information see Ordering Guidance.
Special Instructions
Method Name
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
HEXB Gene, Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Performing 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
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| HEXBZ | HEXB Gene, Full Gene Analysis | 76029-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 608716 | Test Description | 62364-5 |
| 608717 | Specimen | 31208-2 |
| 608718 | Source | 31208-2 |
| 608719 | Result Summary | 50397-9 |
| 608720 | Result | 82939-0 |
| 608721 | Interpretation | 69047-9 |
| 608722 | Resources | In Process |
| 608723 | Additional Information | 48767-8 |
| 608724 | Method | 85069-3 |
| 608725 | Genes Analyzed | 48018-6 |
| 608726 | Disclaimer | 62364-5 |
| 608727 | Released By | 18771-6 |
NY State Approved
NoDay(s) Performed
Varies