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Test ID UBE3Z UBE3A Gene, Full Gene Analysis

Useful For

Confirmation of a diagnosis of Angelman syndrome in patients who have previously tested negative by methylation analysis

Genetics Test Information

Testing includes full gene sequencing of the UBE3A gene

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

If skin biopsy is received, fibroblast culture will be added and charged separately.

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name

UBE3A Gene, Full Gene Analysis

Specimen Type

Varies

Specimen Required

1. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions.

2. 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.

 

Specimen preferred to arrive within 96 hours of collection.

 

Submit only 1 of the following specimens:

 

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/Frozen

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 or 2 full T-25 flasks

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours

 

Specimen Type: Skin biopsy

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin [T115]).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient

Specimen Minimum Volume

Blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Performed weekly, varies

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

81406-UBE3A (ubiquitina protein ligase E3A) (eg, Angelman syndrome), full gene sequence

Fibroblast Culture for Genetic Test

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

88240-Cryopreservation (if appropriate)

 

LOINC Code Information

Test ID Test Order Name Order LOINC Value
UBE3Z UBE3A Gene, Full Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
54034 Result Summary In Process
54035 Result In Process
54036 Interpretation In Process
54037 Additional Information 48767-8
54038 Specimen No LOINC Needed
54039 Source 31208-2
54040 Released By No LOINC Needed