Uniparental
Disomy Studies
- Prader-Willi Syndrome
- Angelman Syndrome
- Russell-Silver Syndrome
- Chromosome 14
Uniparental disomy describes the abnormal assortment of chromosomes
from parent to child. Normally, one-half of the genetic material
is derived from each parent. In uniparental disomy, the chromosome
number is correct, but both members of a chromosome pair or segments
of a chromosome pair are inherited from the same parent. The
detection of uniparental disomy involves PCR analysis of genetic
material from the affected child and both parents. Genetic conditions
that are often associated with uniparental disomy include Prader-Willi
syndrome, Angelman syndrome, Russell-Silver
syndrome and various other malformation syndromes.
Specimen requirements: 5 to 10 ml of peripheral blood
(from both parents and the proband) collected in an EDTA (lavender
top) Vacutainer tube is preferred. The minimal blood needed
for reliable DNA isolation is 3 ml. If necessary, ACD solution
A Vacutainer tubes (yellow top) may be substituted. Prenatal
studies require two confluent T-25 flasks containing cultured
CVS material or amniocytes. A maternal blood sample is also
requested for prenatal analysis.
Transport: Please contact JoAnne Babb (1-800-473-9411),
the Molecular Diagnostic Laboratory coordinator, for shipping
information. The specimen should be kept at room temperature
and delivered via overnight shipping. FedEx delivery is preferred.
If shipment is delayed by one or two days, the specimen should
be refrigerated and shipped at room temperature. Do not freeze
the specimen. Samples collected on a Friday can be safely
designated for Monday delivery.
Analysis standards: Analysis will be completed within
3 weeks from sample receipt. The quality and interpretation of
test results are assessed by the laboratory director. Technical
staff independently assess the quality and interpretation of
the test. The Greenwood Genetic Center Molecular Diagnostic Laboratory
is CLIA certified and actively participates in CAP proficiency
surveys.
Reporting of Test Results: Test results and their interpretation
will be mailed and/or faxed following completion of the test.
Verbal reports will be telephoned to the person(s) requesting
the test when an abnormal test result occurs. Consultation with
the laboratory director is available and explanations of testing
protocols will be supplied upon request.
CPT Codes: 83890, 83898 (x3),
83909 (x2), 83912
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