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Test ID HEXBZ Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies


Advisory Information


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

This test utilizes next generation sequencing to detect single nucleotide and copy number variants in 1 gene associated with Sandhoff disease.

 

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 Advisory Information.

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 Analysis

Specimen Type

Varies

Specimen 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 U.S. 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

No