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PWDNA-M
PRADER-WILLI / ANGELMAN SYNDROME, MOLECULAR ANALYSIS

Test Code PWDNA-M 
Test PRADER-WILLI / ANGELMAN SYNDROME, MOLECULAR ANALYSIS 
Methodology Methylation-Sensitive Multiple Ligation-Dependent Probe
Amplification (MLPA)
(PCR is utilized pursuant to a license agreement with Roche
Diagnostic Systems, Inc.) 
Description Useful for confirmation of diagnosis in patients suspected of having either PWS or AS based on clinical assessment or previous laboratory analyses, or for prenatal diagnosis in families at risk for PWS/AS. 
Specimen Specimen should include a Molecular Genetics Congenital Inherited Diseases Patient Information Sheet including relevant clinical and family history information. SPECIMEN MUST ARRIVE WITHIN 96 HOURS OF COLLECTION.

SUBMIT ONLY 1 OF THE FOLLOWING SPECIMENS:

BLOOD
Draw blood in a lavender-top (EDTA) tube(s) or a yellow-top (ACD) tube(s) and send 5.0 mL (minimum: 0.5 mL) of whole blood in the original VACUTAINERS®. Invert several times to mix blood. Forward unprocessed whole blood promptly at ambient temperature.
(GREEN-TOP [HEPARIN] TUBE IS NOT ACCEPTABLE.)

PRENATAL SPECIMENS
All prenatal specimens must be accompanied by a maternal blood specimen. Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.
AMNIOTIC FLUID
Obtain 20 mL (minimum: 10 mL) of amniotic fluid. Transfer specimen to 2 screw-capped, sterile centrifuge tubes. Send specimen refrigerated. SPECIMEN CANNOT BE FROZEN. A separate culture charge will be assessed unless a chromosome analysis on the specimen is also being performed. Alternatively, we will accept 2 T-25 flasks of confluent cultured cells from another laboratory sent at ambient temperature. 

Reference Values An interpretive report will be provided. 
Analytic Time 14 Days 
Day(s) Test Set Up Monday 
CPT Code(s) 81331