A genetic Research on different types of cancer
Cancer develops from tissues in the lip and oral cavity (mouth), larynx (throat), salivary glands, nose, sinuses or the skin of the face.
Thyroid cancer is a growth of cells that starts in the thyroid. The thyroid is a butterfly-shaped gland located at the base of the neck, just below the Adam's apple. The thyroid produces hormones that regulate heart rate, blood pressure, body temperature and weight.
Lung cancer is a type of cancer that begins in the lungs. Your lungs are two spongy organs in your chest that take in oxygen when you inhale and release carbon dioxide when you exhale.
Esophageal cancer is a disease in which malignant (cancer) cells form in the tissues of the esophagus.
BRCAMap is a targeted next generation sequencing(NGS) Panel for BRCA 1 & BRCA 2 full gene sequencing to assess the BRCA mutations that are responsible for the majority of hereditary breast and ovarian cancers.
The complete genetic research on Mother and child
To determine the carrier status of common genetic disorders in the couple to estimate the risk of passing on a genetic disorder to their future offspring.
Is the first-line screening test globally recommended for detecting common chromosomal abnormalities in fetus such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome)from the cell-free DNA present in the maternal blood sample, passed from placenta.
Is a comprehensive NGS based Newborn Screening for Inborn errors in metabolism(IEM), inherited conditions and other rare genetic disorders with high focus on critical genes in the Newborns. The early detection, diagnosis, can help early intervention for the health and wellbeing of a newborn.
Whole Exome Sequencing (WES) is a technique for sequencing the exonic regions on the DNA. Exome comprises about 1-2% of the whole GENOME, CODES FOR ~23,000 GENES IN HUMANS. Being the protein coding region, ~85% OF disease-causing mutations in Mendelian disorders and many disease-predisposing SNPs are clinically associated with the exomes, sequencing the entire exome can provide detailed insights on the genetic variations.
Whole Genome Sequencing (WGS) analyzes the complete genome 98% of the human DNA. WGS helps identify the variants in the entire genome rather than a few selected regions. Ideal for molecular diagnosis and confirmation of heterogeneous, rare & complex disease.
Genetic counseling is a specialized branch of medicine aimed at helping individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions.
The suspicion of a genetic disorder in a newborn, a family history of cancers, a positive result from a prenatal genetic screen for Down syndrome, a child diagnosed with Autism— these are a few examples of scenarios that confront patients with complex information to be understood and assimilated, and with an array of conflicting emotions. These - as well as other- scenarios oftentimes require difficult decision-making that involve many technical, ethical and highly personal questions. Genetic counseling plays an invaluable role in this process by offering specialized services within a clinical setting.
Genetic Counselors help individuals address the scientific and emotional issues that arise in such situations and actively help them make informed decisions based on their own values and individual circumstances.
Sickle cell anemia is an inherited red blood cells disorder in which the hemoglobin which carries the oxygen throughout the body gets affected. Healthy red blood cells are round, but in people with sickle cell anemia the red blood cells become sticky and hard and look like a C-shaped farm tool called a “sickle”. The sickle cells die early, which causes a continuous shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and choke the blood flow. This can lead to pain and other significant problems such as infection, stroke and acute chest syndrome.
Thalassemia is an inherited blood disorder caused when the body doesn’t make enough of an important part of red blood cells called hemoglobin. The function of red blood cells is to carry oxygen to all the cells of the body. When there isn’t enough hemoglobin, the red blood cells don’t function properly and they live for shorter periods of time. Because of this there is also not enough oxygen delivered to all the other cells of the body. This may cause a person to feel tired, short of breath or weak. This condition is called anemia.
Cystic fibrosis (CF) is a genetic disorder that causes problems with breathing and digestion. People with CF have mucus that is sticky and too thick, which blocks airways and leads to lung damage, traps germs and makes infections more likely and prevents proteins needed for digestion from reaching the intestines, which decreases the individual's ability to absorb nutrients from food.
MTHFR gene codes for the enzyme methylenetetrahydrofolate reductase which is involved in the process of breaking down the amino acid homocysteine.
Target Variant.
G-A transition at nucleotide 20210 in the 3' untranslated region of the prothrombin geneF2 3'UTR F, F2 3'UTR R OR G-A transition at nucleotide 1691 in exon 10F5 EX10F, F5 EX10R
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