Genomics and Genetic Testing Overview: A Comprehensive List of Genomic Tests

Genomics and Genetic Testing Overview: A Comprehensive List of Genomic Tests

The field of genomics has expanded rapidly over the past decade, making genetic testing accessible, affordable, and actionable for individuals, families, and healthcare professionals. Here is a comprehensive overview of the types of genomic tests available — and what each can tell you about your health.

Types of Genomic Tests

1. Whole Genome Sequencing (WGS)

Sequences the entire genome — all 3 billion base pairs of DNA. Provides the most comprehensive genetic information available. Used for rare disease diagnosis, research, and comprehensive health risk assessment.

2. Whole Exome Sequencing (WES)

Sequences only the protein-coding regions of the genome (the exome), which represent approximately 1–2% of the genome but contain approximately 85% of known disease-causing variants. Used for rare and undiagnosed genetic conditions.

3. SNP Array / Genotyping

Tests hundreds of thousands of specific genetic variants (SNPs) associated with health conditions, traits, and ancestry. The basis of most consumer genomics tests including Genomepatri. Fast, affordable, and highly informative for common health conditions.

4. Pharmacogenomic Testing

Tests genetic variants that influence how the body processes and responds to medications. Used to guide drug selection and dosing. MapmyGenome’s Medicamap covers almost 100 FDA-approved drugs across 20+ drug classes.

5. Carrier Screening

Tests whether an individual carries one copy of a gene mutation that, when present in both parents, could cause a genetic disorder in their children. MapmyGenome’s carrier screening covers 171 genetic conditions.

6. Hereditary Cancer Risk Testing

Tests for variants in genes like BRCA1, BRCA2, MLH1, MSH2, and others that significantly increase the risk of hereditary cancers. MapmyGenome’s Oncomap covers 15+ cancer types common in Indians.

7. Prenatal Genetic Testing

Includes Non-Invasive Prenatal Testing (NIPT), amniocentesis, and chorionic villus sampling (CVS). Used to detect chromosomal abnormalities and genetic conditions in the foetus.

8. Nutrigenomics Testing

Tests genetic variants that influence how the body responds to nutrients, dietary components, and eating behaviours. Used to personalise diet and nutrition recommendations.

9. Sports and Fitness Genomics

Tests genetic variants that influence muscle fibre composition, aerobic capacity, injury risk, and recovery. MapmyGenome’s Myfitgene is India’s leading sports and fitness DNA test.

10. Ancestry Testing

Tests genetic variants to determine ancestral origins, ethnic composition, and deep genealogical lineages. MapmyGenome’s Genomepatri Heritage traces maternal and paternal lineages across thousands of years of human migration.