For Doctors

Partnering in Genetics

Better Insights. Better Outcomes.

Geneveda is a specialised genetics centre committed to supporting
healthcare professionals with accurate diagnostics, expert interpretation
and compassionate counselling for improved patient care.

When to Refer for Genetic Evaluation

  • Developmental delay or intellectual disability
  • Autism spectrum disorder with dysmorphic features
  • Multiple congenital anomalies
  • Recurrent pregnancy losses
  • Family history of genetic disorders
  • Consanguineous marriage with affected offspring
  • Unexplained epilepsy or neurodegenerative disorders
  • Suspected hereditary cancer syndromes
  • Abnormal prenatal screening results
  • Positive NIPT requiring confirmatory testing
  • Infertility with suspected chromosomal causes
  • Previous child with a genetic condition
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2. WHICH TEST SHOULD I ORDER?

CLINICAL SCENARIO
RECOMMENDED TEST
🧬 Down syndrome suspicion
Karyotyping/FISH
🧬 Multiple congenital anomalies
Chromosomal Microarray (CMA)
🧬 Developmental delay / Intellectual disability / Autism spectrum disorder
Chromosomal Microarray (CMA) ± Exome Sequencing
🧬 Known familial single-gene disorder / targeted mutation testing
Sanger Sequencing
🧬 Suspected hereditary cancer syndrome
Next Generation Sequencing (NGS) Panel
🧬 Clinically heterogeneous suspected monogenic disorder
Next Generation Sequencing (NGS)
🧬 Prenatal diagnosis
CVS / Amniocentesis with appropriate genetic testing
🧬 Bone marrow transplant work-up
HLA Typing
🧬 Recurrent miscarriages
Parental Karyotyping Parental Chromosomal Microarray (CMA) Product of Conception (POC) Chromosomal Microarray
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4. PRENATAL TESTS GUIDE

Gestational Age
Assessment
10 weeks onwards
Non-Invasive Prenatal Testing (NIPT)
11–13 weeks + 6 days
NT Scan + Dual Marker (If NIPT not done)
11–13 weeks
Chorionic Villus Sampling (CVS) – When indicated, followed by genetic testing
15–20 weeks
Amniocentesis – When indicated followed genetic testing
15–22 weeks
Quadruple Marker Test (If NIPT not done)
18–22 weeks
Anomaly Scan
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3. SAMPLE REQUIREMENTS

Test
Sample
🧫 Karyotyping/FISH
Sodium heparin blood
🔬 FISH
Sodium heparin blood
🧬 Chromosomal Microarray (CMA)
EDTA blood
⚙️ Next Generation Sequencing (NGS)
EDTA blood
📊 Sanger Sequencing
EDTA blood
🔗 HLA Typing
EDTA blood / Buccal swab
🧪 Prenatal Testing
CVS / Amniotic fluid

EDTA TUBE

Cap Colour: Lavender / Purple

Sample: Whole Blood, Bone Marrow

Used For: CMA, NGS, Sanger Sequencing, DNA isolation, PCR - based tests

SODIUM HEPARIN TUBE

Cap Colour: Green

Sample: Whole Blood, Bone Marrow

Used For: Karyotyping and FISH

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Mix gently by inverting the tube 8–10 times. Do not shake vigorously.