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Laboratory Test Directory

UBE3A Gene Sequencing

Components

Name Method Department Units
UBE3A Gene Sequencing Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
Sanger sequencing
DNA extraction
Molecular Genetics

Specimen Requirements

Whole blood

Container Type Container Size Specimen Volume
Preferred

Purple tube (EDTA)

4 mL 4 mL-8 mL
Stability

Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)

Specimen Preparation

  • Do not centrifuge
  • Do not freeze
  • Transport to laboratory as soon as possible

Reasons for Rejection

  • Centrifuged specimen
  • Clotted specimen
  • Frozen specimen
  • Wrong collection tube
  • Delayed or improper handling

Comments

Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended.

About 80% of Angelman syndrome is caused by an absence of expression of imprinted genes in the maternally-derived PWS/AS critical region, which is located within chromosome band 15q11.2-q13 that includes the SNRPN and UBE3A genes. If Angelman syndrome is suspected, then PWS/AS methylation analysis (SNRPN methylation-specific PCR analysis; see test code PWSASMETHYL) should be performed first, which detects about 80% of Angelman syndrome cases, including those caused by 15q11.2-q13 deletion, chromosome 15 uniparental disomy (UPD15), and imprinting center defects. About 11% of Angelman syndrome patients have a mutation in the UBE3A gene, and these patients have a NORMAL methylation result. Therefore, UBE3A gene sequencing should be performed as a reflex test for patients with clinical features of Angelman syndrome and a normal methylation result. Together, methylation analysis combined with UBE3A gene sequencing detect up to 90% of Angelman syndrome cases.

Targeted mutation analysis available for other family members when mutation known (see test code FMLIS).

Forms

Lab Form

CPT Code

  • 81406