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Order Code HEXAZ Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies

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.

Method Description

Bidirectional sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the beta-hexosaminidase A gene (HEXA).(Unpublished Mayo method)

Day(s) Performed

Performed weekly

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81406

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 a Biochemical Genetics Test Request (T798) with the specimen.

Reject Due To

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.