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CYTOGENETIC STUDY, BLOOD, ROUTINE / PERCUTANEOUS UMBILICAL BLOOD SAMPLING (PUBS)

Test Code: CG BLOOD
General Information:

Chromosomal analysis on peripheral blood is a way to look at the constitutional chromosomal make-up or karyotype of an individual. Peripheral blood is cultured in tissue culture media supplemented with a mitogen, PHA (or phytohemagglutinin) that causes the lymphocytes to grow in culture. After 48 to 96 hours in culture, metaphase chromosomes are "harvested" and slides made for chromosome analysis. Percutaneous umbilical blood sampling (PUBS), a prenatal diagnostic technique, is generally used when fetal blood is the sample of choice and is performed at 20 weeks of gestation or greater. Fetal blood is removed from the umbilical cord, while the fetus is in the uterus. Standard chromosomal analysis is performed.

 

Indications: FOR BLOOD CHROMOSOME ANALYSIS:

  • Individuals with multiple congenital anomalies and/or mental retardation or developmental delay
  • Couples with a history of first trimester spontaneous miscarriages or infertility
  • Individuals with a family history of a heritable chromosomal abnormality
  • Couples with a history of abnormal live born offspring
  • Confirmation of a prenatally diagnosed chromosomal abnormality

FOR PUBS:

  • Mosaic chromosomal anomalies found on CVS, amniotic fluid or both
  • Other hematological conditions that may be present in the fetus

 
 


 
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