Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

ANGELMAN SYNDROME (UBE3A) SEQUENCING

General Information

Lab Order Codes:

UBE3A

Synonyms:

UBE3A sequencing

CPT Codes:

81406 – UBE3A (ubiquitin protein ligase E3A) (eg, Angelman syndrome), full gene sequence

Test Includes:

Sequencing of the UBE3A gene. An interpretive report will be issued.

Logistics

Test Indications:

N/A

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

University of Chicago Genetic Services Laboratory

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Monday – Thursday, 24 hours

Turnaround Time:

4 – 6 weeks for the first sample

Special Instructions:

Please include completed University of Chicago Request and Consent forms with the specimen or patient to the laboratory.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

10 mL (Minimum: 3 mL) blood

Processed Volume:

3 - 10 mL whole blood

Collection:

Routine venipuncture

Special Processing:

Lab Staff: Do Not centrifuge. Send specimens in original collection containers via overnight shipping. Store and ship at room temperature. Forward promptly.
Note:
Specimens can only be shipped Monday through Thursday. Specimens will not be processed at the University of Chicago on weekends or holidays. Hold specimens collected on weekends and holidays at refrigerated temperatures and ship at ambient temperatures on the next business day, Monday – Thursday.

Patient Preparation:

None

Sample Rejection:

Mislabeled or unlabeled specimens

Interpretive

Reference Range:

No abnormality detected

Critical Values:

N/A

Limitations:

N/A

Methodology:

PCR amplification, gel electrophoresis

References:

University of Chicago Genetic Services Laboratory April 2010
(888) 824-3637 Fax (773) 834-0556

Updates:

1/15/2013: CPT update



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