Prader-Willi/Angelman Syndrome, Molecular Analysis

Synonyms

• LAB11420
• PRADER WILLI/ANGELMAN

Cerner Name

Prader Willi/Angelman

Clinical Info

Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis
Prenatal diagnosis in families at risk for PWS or AS

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Container

Lavender Top Tube

Collection Instructions

Submit only 1 of the following specimens
Specimen Type: Whole blood
Container/Tube: Preferred: Lavender top (EDTA) or yellow top (ACD)Specimen Volume: 3 mL( 1 mL min)
Collection Instructions:1. Invert several times to mix blood.2. Send specimen in original tube.
Specimen Stability: Room Temperature (preferred)/Refrigerated
Prenatal Specimens Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.
Specimen Type: Amniotic fluid
Container/Tube: Amniotic fluid container
Specimen Volume: 20 mL(10 mL min)
Specimen Stability Information: Refrigerated
Container/Tube: T-25 flask
Specimen Volume: 2 flasks
Collection Instructions: Submit confluent cultured cells from another laboratory.
Stability Information: Room Temperature

Specimen Volume

Transport Instructions

Specimen Stability

See above for Specimen Type

Methodology

Multiple Ligation-Dependent Probe Amplification (MLPA)

Days Performed

TAT: 11- 15 Days

Performing Laboratory

Mayo Medical Laboratories
Mayo Test code PWAS

CPT

81331
LOINC Code:  35466-2

PDM

5906053

Only Orderable at Locations:

Orderable Everywhere

Results

Result Interpretation

Forms