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16300: Fragile X Dna Analysis, Fetus Print View
Fragile X      

PRIMARY
1 Clturd cells in T25 Flask   Room Temperature - 48 Hour(s)  
ALTERNATE
  CVS Cultured cells T25   Room Temperature - 48 Hour(s)  
  Amniotic Fluid   Room Temperature - 48 Hour(s)  

This test is to be used in prenatal diagnosis of Fragile X (FX) syndrome in pregnancies where the mothers are identified carriers of gray zone (45-54), permutation (55-200), or full-mutation (>200) CGG repeat alleles. It can also be used in the prenatal diagnosis of fetuses whose siblings are affected with FX.

Cultured Cells: Ship two 100% confluent T-25 flasks filled with growth
media. Ship at room temperature. Do not refrigerate or freeze. Call
lab for additional requirements for prenatal testing. Indicate source
of cells: Amniotic Fluid (AF) or Chorionic Villus Sample (CVS).

Amniotic Fluid: See Genetics Specimen Collection (Cytogenetics,
Chromosome Studies) Section for detailed specimen instructions.

Chorionic Villus Sample (CVS): While chorionic villi specimens are
acceptable, they are not preferred as methylation is incomplete in
CVS. See Genetics Specimens Collection (Cytogenetics, Chromosome
Studies) Section for detailed specimen instructions.
Setup Schedule
Wednesday

Reported (Analytical Time)
10 days


Notes
Specimen Requirement Preferred Specimen: Cultured cells in T25 flask (x2) Other Acceptable Specimens: Cultured cells from CVS in T-25 Flask (x2) or 20mL amniotic fluid in a sterile transport tube Specimen Stability Room temperature: 48 hours Refrigerated: Unacceptable Frozen: Unacceptable Methodology: FX-Polymerase Chain Reaction/Triplet-Primed Polymerase Chain Reaction followed by Methylation PCR Analysis Setup Schedule Test is batched; Set up as needed; day of week varies. Transport Temperature: Room temperature






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