Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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
Samples from fetus or child and both parents are required for analysis. Chromosome of interest must be specified on request form.
Test ID | Reporting Name | Available Separately | Always Performed |
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CULFB | Fibroblast Culture for Genetic Test | Yes | No |
CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
Polymerase chain reaction (PCR) and microsatellite markers on the chromosome of interest are used to test DNA from the parents and the child for the presence of uniparental disomy. Uniparental disomy testing is available for all chromosomes, with the exception of chromosome 11 for certain indications. Contact the laboratory for additional information.
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.
Polymerase Chain Reaction (PCR)/Microsatellite markers