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Combined Chromosome and Methylation Studies (routine):
High resolution chromosome analysis plus DNA methylation analysis on Prader-Willi
syndrome or Angelman syndrome.
Specimen Requirements: 5-10 cc blood
(1-2 cc for newborns) in a green top tube (sodium heparin). Mix
well by inverting. Maintain specimen at room temperature.
Turn Around Time: 7-14 days
Methylation Study: Determination
of methylation pattern associated with PWS/AS.
Specimen Requirements:10 cc whole blood in a
purple top tube (EDTA). 2 cc whole blood in a purple top tube
(EDTA).
Turn Around Time: 5-10 days
FISH Study Only (Previous Chromosome and Methylation Study Required): FISH
analysis using DNA probes to test for specific deletions associated
with Prader-Willi syndrome or Angelman syndrome.
Specimen Requirements: 5-10 cc blood (1-2 cc
for newborns) in a green top tube (sodium heparin). Mix well by
inverting. Maintain specimen at room temperature. Fixed cells
from a previous cytogenetic study can be used. Contact the laboratory
to check the availability of fixed cells.
Turn Around Time: 7-14 days
Uniparental Disomy Study (Previous Chromosome and Methylation Studies
Required): Determination of parent of origin for chromosomes
showing imprinting effects, e.g. Chromosome 15 UPD in Prader-Willi
and Angelman syndromes.
Specimen Requirements: Patient: 10 cc whole
blood in a purple top tube (EDTA) or 2 cc amniotic fluid in sterile
plastic conical tube. Parents: 10 cc of whole blood in a purple
top tube (EDTA) is also required from each parent.Refrigerate
specimen until shipment.
Turn Around Time: 14 days
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