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Test Catalog

Test ID: UPD    
Uniparental Disomy

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

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


Uniparental disomy testing is available for all chromosomes

Genetics Test Information Provides information that may help with selection of the correct 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 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
FBCFibroblast Culture for Genetic TestYesNo
AFCAmniotic Fluid Culture/Genetic TestYesNo

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. If chorionic villus specimen (non-confluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately.

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

Polymerase Chain Reaction (PCR)/Microsatellite markers on the chromosome of interest are used to test DNA from parents and child for the presence of uniparental disomy.

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

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