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CHROMOSOMAL ANALYSIS:

Chromosomal Analysis

 

Indications for Testing

  • Advanced maternal age
  • Previous child or pregnancy with chromosomal abnormality
  • Abnormal ultrasound
  • Abnormal maternal serum screen
  • Fetal demise
  • Multiple miscarriage
  • Mental retardation or developmental delay
  • Dysmorphism
  • Congenital anomalies
  • Male or female infertility

 

Testing Methodology

G-band chromosomal analysis is performed on all blood specimens. High resolution analysis is performed when indicated. Additional chromosome banding techniques are utilized when necessary. Cell cultures are established from all amniotic fluid, chorionic villi, and tissue specimens followed by G-band chromosome analysis.

 

Specimen Requirements

Prenatal Studies

Amniotic fluid: Collect 20 – 25 cc in a 50 ml sterile conical centrifuge tube.

Chorionic villi: Collect 15 – 20 mg villi in a T-25 tissue culture flask containing sterile tissue culture media.

 

Postnatal Studies

Blood: For adults and children, 3 – 5 cc collected in a sodium heparin (green top) vacutainer tube. For newborns, 1 - 2 cc is sufficient. Do not centrifuge or freeze. Store sample at room temperature.

 

Other Tissue Studies

Collect 5 mm tissue in sterile culture media.

 

Turnaround Time

Prenatal studies with cell culture: 7 - 10 days

Postnatal studies: 7 - 14 days

Other tissue studies with cell culture: 14 - 21 days

 

CPT Codes

Blood: 88262, 88230, 88291

Amniotic fluid and chorionic villi: 88235, 88267, 88280, 88291

Other tissue: 88262, 88233, 88291

Alpha-Fetoprotein: 82106

 

Forms and Transport & Shipping Informtaion

> Medical Genetics Test Requisition Form

> Medical Genetics Specimen Transport and Shipping Information

 

 

 

 

 

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