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Unit Code 82970:
Uniparental Disomy

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Useful For

Evaluation of patients presenting with mosaicism, confined placental

mosaicism, or Robertsonian translocations, especially those involving

chromosome 6, 7, 14, or 15

 

Evaluation of patients presenting with features of disorders known to be

associated with UPD (eg, Russell-Silver syndrome)

 

Evaluation of disease mechanism in individuals with rare autosomal

recessive disease and only one carrier parent

 

UPD testing is available for all chromosomes; it may also be useful

 for evaluating abnormalities involving chromosomes other than

6, 7, 14, or 15

Reflex Tests

 Unit Code  Reporting Name  Available Separately  Always Performed 
80333 Fibroblast Culture for Genetic Test Yes No
80334 Amniotic Fluid Culture/Genetic Test Yes No

Testing Algorithm

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

• Molecular Genetics - Congenital Inherited Diseases Patient Information Sheet 
• Informed Consent Form for DNA Testing 

Method Name

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

Uniparental Disomy

Ordering Mnemonic

UPD

Aliases

Angelman's Syndrome (UPD [Uniparental Disomy])

Imprinting

Neonatal Diabetes (UPD [Uniparental Disomy])

Prader Willi Syndrome (UPD [Uniparental Disomy])

Russell-Silver Syndrome

Silver-Russell Syndrome

UPD (Uniparental Disomy)

Key