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Laboratory Test Directory

Chromosome 15 Uniparental Disomy Analysis (UPD15)

Components

Name Method Department Units
Chromosome 15 Uniparental Disomy Analysis (UPD15) Capillary electrophoresis
Polymerase chain reaction (PCR)
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

This test detects the presence of uniparental disomy for chromosome 15 (UPD15). Maternal UPD15 causes Prader-Willi syndrome, while paternal UPD15 causes Angelman syndrome. UPD causes approximately 25% of cases of Prader-Willi syndrome and approximately 7% of cases of Angelman syndrome.

This test should only be ordered for patients who had an ABNORMAL Prader-Willi/Angelman syndrome methylation analysis (methylation-specific SNRPN PCR assay; test code: PWSASMETHYL), as well as NORMAL 15q deletion testing by FISH (test code: FISHON) or microarray analysis (test code: SNPMA).

Peripheral blood sample (4-8 mL EDTA) from at least one biological parent must be submitted along with the patient sample; blood sample submission from both biological parents will yield the most informative result.

Please complete a separate Genetic Test Requisition Form for patient and each parent. 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. Please call (614) 722-2866 with questions.

Forms

Lab Form

CPT Code

  • 81402