Special Instructions: Blood sample required; pre-test counseling advised Parameters Covered: Multiple Report Frequency: 4–6 weeks Parameters: Hereditary cancer genes (BRCA1/2, Lynch syndrome), carrier screening (CFTR, SMA, thalassemia), and pharmacogenetic markers
2
Newborn Screening Panel
Special Instructions: Performed at 24–48 hours after birth; heel-prick blood sample Parameters Covered: Multiple Report Frequency: 1–2 weeks Parameters: Metabolic disorders, congenital hypothyroidism, hemoglobinopathies, cystic fibrosis
3
Karyotype Analysis
Special Instructions: Blood or amniotic fluid sample required Parameters Covered: 46 chromosomes Report Frequency: 7–14 days Parameters: Chromosome count and large structural abnormalities
4
Non-Invasive Prenatal Testing (NIPT)
Special Instructions: From 10 weeks of pregnancy; maternal blood sample required Parameters Covered: 3–5 Report Frequency: 7–10 days Parameters: Trisomy 21, Trisomy 18, Trisomy 13, sex chromosome abnormalities
5
Chromosomal Microarray (CMA)
Special Instructions: Blood sample required; parental samples may be requested Parameters Covered: Genome-wide CNVs Report Frequency: 2–3 weeks Parameters: Sub-microscopic chromosomal deletions and duplications
6
Whole Exome Sequencing (WES)
Special Instructions: Blood sample required; pre-test counseling advised Parameters Covered: ~20,000 genes Report Frequency: 4–6 weeks Parameters: Sequencing of all protein-coding genes for disease-causing variants
7
Pharmacogenetic Panel
Special Instructions: No special preparation required Parameters Covered: Multiple Report Frequency: 1–2 weeks Parameters: CYP2C19, CYP2D6, CYP2C9, DPYD, TPMT and other drug-response genes
