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Test Code TSDP Tay-Sachs Disease, Mutation Analysis, HEXA

Useful For

Carrier testing of individuals of Ashkenazi Jewish ancestry or who have a family history of Tay-Sachs disease

 

Determining Tay-Sachs disease carrier status for individuals with enzyme activity within the carrier or equivocal ranges

 

Prenatal diagnosis of Tay-Sachs disease for at-risk families

 

Confirmation of suspected clinical diagnosis of Tay-Sachs disease in individuals of Ashkenazi Jewish ancestry

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No
CULAF Amniotic Fluid Culture/Genetic Test Yes No
MATCC Maternal Cell Contamination, B Yes No

Testing Algorithm

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

 

The following algorithms are available in Special Instructions:     

Tay-Sachs Disease Carrier Testing Protocol

Tay-Sachs and Related Disorders Diagnostic Testing Algorithm

Method Name

Polymerase Chain Reaction (PCR) Analysis

Reporting Name

Tay-Sachs, Mutation Analysis

Specimen Type

Varies


Additional Testing Requirements


All prenatal specimens must be accompanied by a maternal blood specimen.

-Order MATCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.

Prenatal specimens can be sent Monday through Thursday and must be received by 5 p.m. CST on Friday in order to be processed appropriately.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 2.6 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated/Frozen

 

Prenatal Specimens

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.

 

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient

 

Specimen Type: Chorionic villi

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated

 

Acceptable:

Specimen Type: Confluent cultured cells

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Specimen Minimum Volume

Blood: 0.5 mL
Amniotic Fluid: 10 mL
Chorionic Villi: 5 mg

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Tuesday; 10 a.m.

Performing Laboratory

Mayo Medical 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

81255-HEXA (hexosaminidase A, alpha polypeptide) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G->C, G269S)

Fibroblast Culture for Genetic Test

88233-Tissue culture, skin or solid tissue biopsy (if appropriate)

88240-Cryopreservation (if appropriate)

 

Amniotic Fluid Culture/Genetic Test

88235-Tissue culture for amniotic fluid (if appropriate)

88240-Cryopreservation (if appropriate)

 

Maternal Cell Contamination, B

81265-Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] and donor testing, twin zygosity testing or maternal cell contamination of fetal cells (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
TSDP Tay-Sachs, Mutation Analysis 51773-0

 

Result ID Test Result Name Result LOINC Value
53185 Result Summary 50397-9
53186 Result 51773-0
53187 Interpretation 69047-9
53188 Reason for Referral 42349-1
53189 Specimen 31208-2
53190 Source 31208-2
53191 Released By No LOINC Needed

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