Test Catalog

Test ID: UNIPD    
Uniparental Disomy

Useful For Suggests clinical disorders or settings where the test may be helpful

Evaluation of patients presenting with mosaicism, confined placental mosaicism, or Robertsonian translocations

 

Evaluation of patients presenting with features of disorders known to be associated with uniparental disomy (eg, Russell-Silver syndrome)

 

Evaluation of disease mechanism in individuals with rare autosomal recessive disease and only one carrier parent

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Samples from fetus or child and both parents are required for analysis. Chromosome of interest must be specified on request form.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Uniparental disomy testing is available for all chromosomes. PCR and microsatellite markers on the chromosome of interest are used to test DNA from parents and child for the presence of uniparental disomy.

 

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately.

 

See Prader-Willi and Angelman Syndromes: Laboratory Approach to Diagnosis algorithm in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR)/Microsatellite markers

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Uniparental Disomy

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

Angelman Syndrome
Neonatal Diabetes
Prader-Willi Syndrome
Russell-Silver Syndrome
UPD