Our Services
At GeneHealth, we provide advanced genetic testing and analysis to help you understand your health risks, ancestry, and personal wellness. Our personalized health reports and expert counseling empower you to make informed lifestyle choices for a healthier future. Unlock the power of your DNA with GeneHealth.
Karyotype Test
A karyotype test examines the number and structure of a person’s chromosomes in order to detect abnormalities. Chromosomes are long strands of DNA that contain genetic information, and they are typically found in pairs. Humans normally have 46 chromosomes, arranged in 23 pairs. A karyotype test helps identify conditions such as:
Down Syndrome (Trisomy 21): Presence of an extra chromosome 21.
Turner Syndrome: A condition in which a female has only one X chromosome instead of two.
Klinefelter Syndrome: Males have an extra X chromosome (XXY instead of XY).
Other structural chromosomal abnormalities such as translocations, deletions, and duplications.
This test is performed by obtaining a sample of blood, bone marrow, or amniotic fluid, growing the cells in a laboratory, and analyzing their chromosomal structure under a microscope.
Cytogenetics
Cytogenetics is a field of genetics that involves studying the structure, number, and function of chromosomes. This analysis helps detect chromosomal abnormalities that can lead to genetic disorders. Techniques used in cytogenetics include:
G-banding (Giemsa banding): A staining method that highlights chromosome patterns.
Fluorescence In Situ Hybridization (FISH): Uses fluorescent probes to detect specific DNA sequences within chromosomes.
Comparative Genomic Hybridization (CGH): Compares DNA from a patient to a reference DNA sample to detect chromosomal imbalances.
Cytogenetic tests are crucial for diagnosing conditions such as leukemia, lymphoma, and other cancers that involve chromosomal abnormalities.
Microarrays
Microarray technology, also known as chromosomal microarray analysis (CMA), is used to detect small genetic changes that may not be visible under a microscope. It helps identify:
Duplications: Extra copies of DNA segments.
Deletions: Missing DNA segments.
Copy Number Variants (CNVs): Variations in the number of copies of a particular gene.
Regions of Homozygosity (ROH): Large identical DNA stretches that may indicate consanguinity or an increased risk for recessive disorders.
This test is commonly used for diagnosing developmental delays, autism spectrum disorders, and unexplained congenital anomalies.
Gene expression profiling
Gene expression profiling measures the activity of thousands of genes at once to understand which genes are turned on or off in a particular tissue sample. This test helps in:
Cancer Diagnosis and Prognosis: Determines how aggressive a cancer is and which treatments may be effective.
Understanding Disease Mechanisms: Identifies genes involved in diseases such as diabetes and cardiovascular conditions.
Personalized Medicine: Helps tailor treatments based on an individual’s genetic profile.
DNA sequencing determines
DNA sequencing determines the exact order of the nucleotides (adenine, thymine, cytosine, and guanine) in a DNA strand. There are different types of sequencing:
Sanger Sequencing: A traditional method used for small-scale sequencing.
Next-Generation Sequencing (NGS): A high-throughput method that allows for rapid sequencing of large amounts of DNA.
Whole Genome Sequencing (WGS): Analyzes the entire DNA sequence of an individual.
Whole Exome Sequencing (WES): Focuses on the protein-coding regions of the genome.
DNA sequencing is essential for diagnosing rare genetic disorders, identifying mutations linked to diseases, and guiding personalized treatment plans.
Biochemical genetic tests
Biochemical genetic tests measure the levels or activity of proteins and enzymes in the body that are produced by genes. These tests are useful for diagnosing metabolic disorders, such as:
Phenylketonuria (PKU): A disorder that affects the breakdown of amino acids.
Gaucher Disease: A lysosomal storage disorder caused by a deficiency in the enzyme glucocerebrosidase.
Tay-Sachs Disease: A fatal genetic disorder that affects nerve cells in the brain.
These studies help identify enzyme deficiencies and other metabolic abnormalities that can lead to genetic diseases.
Cell-free DNA testing (cfDNA)
Cell-free DNA testing, also known as non-invasive prenatal testing (NIPT), analyzes fetal DNA circulating in the mother’s blood. This test can detect chromosomal abnormalities such as:
Down Syndrome (Trisomy 21)
Edwards Syndrome (Trisomy 18)
Patau Syndrome (Trisomy 13)
Since it is non-invasive, it poses no risk to the fetus, unlike traditional invasive prenatal tests such as amniocentesis.
Exome sequencing
Exome sequencing focuses on the protein-coding regions of the genome, which make up about 1-2% of the DNA but contain about 85% of disease-causing mutations. It is particularly useful for diagnosing rare genetic diseases and conditions with unknown causes.
Whole genome sequencing (WGS)
Whole genome sequencing analyzes an individual’s entire DNA sequence, including both coding and non-coding regions. This comprehensive test helps in:
Understanding Complex Diseases: Identifying multiple genetic factors contributing to conditions like diabetes and heart disease.
Cancer Genomics: Detecting mutations in tumor cells to guide targeted therapies.
Personalized Medicine: Tailoring treatments based on a person’s unique genetic makeup.
Conclusion
Genetic testing is revolutionizing the healthcare industry, paving the way for personalized and predictive medicine. GeneHealth Pvt. Ltd. offers cutting-edge Whole Genome Sequencing (WGS) services, allowing individuals to unlock the secrets of their DNA and take control of their health. In the Indian healthcare landscape, where personalized medicine is still in its infancy, genetic testing offers a powerful tool for early disease detection, prevention, and targeted therapies.
This technology is particularly beneficial for individuals with rare genetic disorders, a family history of hereditary diseases, and those from communities with high rates of genetic conditions. It is also invaluable for cancer patients seeking tailored treatments and individuals interested in personalized healthcare. As the genomics revolution progresses, services like WGS empower individuals to make informed health decisions, reduce the risks of genetic diseases, and optimize treatments for better outcomes. With advancements in AI-driven diagnostics and genetic research, the future holds immense potential for improving human health through precision medicine.
