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Test Code MISC2MAYOHEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis

Useful For

Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD)

 

Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not been identified

 

Testing individuals with enzyme activity consistent with carrier status but negative molecular testing by a panel of common mutations

Method Name

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

Reporting Name

HEXA Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



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 Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly, varies

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

81406

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HEXAZ HEXA Gene, Full Gene Analysis 76033-0

 

Result ID Test Result Name Result LOINC Value
53943 Result Summary 50397-9
53944 Result 82939-0
53945 Interpretation 69047-9
53946 Additional Information 48767-8
53947 Specimen 31208-2
53948 Source 31208-2
53949 Released By 18771-6

Testing Algorithm

The following algorithms are available in Special Instructions:     

Tay-Sachs Disease Carrier Testing Protocol

Tay-Sachs and Related Disorders Diagnostic Testing Algorithm

Secondary ID

35454

Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.