Web: | mayocliniclabs.com |
---|---|
Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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
Preferred first-tier test for diagnosis of Angelman (AS) and Prader-Willi syndrome (PWS). Multiplex ligation probe amplification (MLPA) is used to identify abnormal methylation of the PWS/AS region of chromosome 15.
Mayo Clinic Laboratories highly recommends that this test be ordered along with a routine chromosomal microarray analysis, CMACB / Chromosomal Microarray, Congenital, Blood, if the diagnosis of PWS or AS is not certain and chromosome analysis has not already been done.
Test ID | Reporting Name | Available Separately | Always Performed |
---|---|---|---|
CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
MATCC | Maternal Cell Contamination, B | Yes | No |
For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
See Prader-Willi and Angelman Syndromes: Laboratory Approach to Diagnosis in Special Instructions.
Methylation-Sensitive Multiple Ligation-Dependent Probe Amplification (MLPA)
(PCR is utilized pursuant to a license agreement with Roche Diagnostic Systems, Inc.)