Unit Code 82970:
Uniparental Disomy
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)


