Mobile Site ›
Print Friendly View

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

81153

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

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 IDReporting NameAvailable SeparatelyAlways Performed
AFCAmniotic Fluid Culture/Genetic TestYesNo
MCCMaternal Cell Contamination, BYesNo

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

Prader Willi/Angelman Mol Analysis

Aliases Lists additional common names for a test, as an aid in searching

Angelman Syndrome, Uniparental Disomy and Deletions
Methylation Studies
Prader-Willi Syndrome, Uniparental Disomy and Deletions