Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies - Mayo Clinic Laboratories Rochester

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

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 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 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 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	99622-3
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

Day(s) Performed