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ChromosomesCheck™

What is ChromosomesCheck™ ?

ChromosomesCheck™ is a rapid genetic test that detects common chromosome abnormalities using the QF-PCR (Quantitative Fluorescent Polymerase Chain Reaction) method. This test provides quick and accurate results by analyzing specific DNA markers from chromosomes.

What Does It Detect?

ChromosomesCheck™ focuses on identifying the most common aneuploidies (abnormal number of chromosomes):

  • Trisomy 21 (Down Syndrome)
  • Trisomy 18 (Edwards Syndrome)
  • Trisomy 13 (Patau Syndrome)
  • Sex Chromosome Abnormalities (X and Y)
Key Benefits
  • Fast Results – Provides rapid detection compared to traditional karyotyping
  • Accurate Screening – Highly sensitive in identifying targeted chromosomal abnormalities
  • Supports Clinical Decisions – Helps doctors and families in early diagnosis and care planning
Who Should Consider ChromosomesCheck™ ?

This test may be recommended for:

  • Pregnant women undergoing prenatal diagnosis (e.g., after invasive procedures like amniocentesis or chorionic villus sampling)
  • Families with a history of chromosomal disorders
  • Cases where ultrasound shows suspicious findings that require genetic confirmation
  • Parents seeking faster results before full karyotyping or microarray is completed
Next Steps

ChromosomesCheck™ offers targeted rapid answers, but it can be followed by Karyotyping or Chromosomal Microarray (CMA) for a more comprehensive analysis of structural and rare chromosomal abnormalities.

Specimen Requirements
Clinical usageRapid aneuploidy detection of T21, T18, T13, X & Y using QF-PCR method
Type of sampleFor fetus:
• 15ml Amniotic Fluid (Sterile 15mL conical tubes)
• 10 – 15pcs Chorionic Villus Sample (CVS) (Sterile 15mL conical tubes with Normal Saline)
• 30mg Tissue of Product of Conception (POC) (Sterile 50ml conical tube with Normal Saline)
• 1ml Fetal Blood (EDTA Tube)
IMPORTANT:
For fetus or POC sample, 3ml Maternal Blood (EDTA Tube) is compulsory to rule out maternal cell contamination. Specimen should NOT be soaked in fixatives e.g. formalin/ formaldehyde /alcohol.

For individual:
– 3ml Blood (EDTA Tube)

For newborn:
– 1ml Blood (EDTA Tube)
Patient requirementGestation age for CVS: 10 – 12 weeks
Gestation age for Amniotic Fluid: ≥15 weeks
IMPORTANT: Please provide relevant clinical indication and sign the Consent on request form
Storage & transportationStore and transport in ROOM TEMPERATURE. If the sample cannot be transported to the laboratory on the same day of collection, please store it at 2°C to 8°C.
Turnaround Time (TAT)3 working days