Test ID: PWDNA
Prader-Willi/Angelman Syndrome, Molecular Analysis
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
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/AS
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Preferred first-tier test for diagnosis of Angelman and Prader-Willi syndromes. Multiplex ligation probe amplification (MLPA) is used to identify abnormal methylation of the PWS/AS region of chromosome 15.
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| AFC | Amniotic Fluid Culture/Genetic Test | Yes | No |
| MCC | Maternal Cell Contamination, B | Yes | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
For prenatal specimens only: If amniotic fluid (non-confluent 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.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
Methylation-Sensitive Multiple Ligation-Dependent Probe Amplification (MLPA)
(PCR is utilized pursuant to a license agreement with Roche Diagnostic Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Methylation Studies
Prader-Willi Syndrome, Uniparental Disomy and Deletions
External
link
PDF
document
Excel
document
Word
document