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Test Code UBE3A DNA Angelman Syndrome Sequencing UBE3A Test

Clinical System Name

Angelman Syndrome Sequencing UBE3A Test



AS-Angelman syndrome


Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year, and it can take several years before the correct clinical diagnosis is obvious.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 4 mL

Minimum Vol: 2 mL


Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 800 nanograms

Minimum Vol: 600 nanograms

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Affix large Cerner labels to tubes and place in refrigerator send-outs rack.


Off-site collection: Send whole blood refrigerated.


Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 5 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely



N 2-4 w


Performing Laboratory

MNG Laboratories


Department:  MNG Laboratories, 5424 Glenridge Dr, Atlanta, GA 30342

Phone Number: (678) 225-0222 


Reference Range

Interpretive report is provided.


Method: Sanger Sequencing

Analytical Volume:


Special Instructions

Links to:


MNG Laboratories


Clinical Utility

The diagnosis of AS is established in a proband who meets the consensus clinical diagnostic criteria and/or who has findings on molecular genetic testing that suggest deficient expression or function of the maternally inherited UBE3A allele. Analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region detects approximately 80% of individuals with AS, including those with a deletion, uniparental disomy (UPD), or an imprinting defect (ID); fewer than 1% of individuals have a cytogenetically visible chromosome rearrangement (i.e., translocation or inversion). UBE3A sequence analysis detects pathogenic variants in an additional approximately 11% of individuals.


GeneReviews: Angelman syndrome

Send Out Instructions

Reference Test Name: UBE3A Full Gene Sequencing Analysis
Reference Test Number: MOL093

Ship at room temperature, avoid freezing sample. Send overnight via FedEX. All samples should be shipped overnight at the proper temperature for receipt by our lab Monday thru Saturday.

(No Sunday or holiday deliveries accepted).