Molecular testing
Genomic Health Screening
Aaranya Biosciences introduces genomic health packages to help individuals assessgenetic health status. We have both invasive and noninvasive tests. From either blood or saliva swab, we can help you gain insight into your genetic disposition. Any disease or syndrome is due to gene abnormalities or mutation.
Chromosomal disorders/Abnormalities
Normally there 23 pairs of chromosomes in each human cell. Changes caused in the number of chromosomes leads to chromosomal conditions. Alongside thechange in chromosomal structure may also lead to chromosomal disorders/abnormalities.
Down syndrome is characterized by multiple health problems. It is often associated with intellectual disability, cognitive delay, and multiple birth defects.This occurs due to the presence of an extra copy of Chromosome 21 in the cell. Its also known as trisomy 21
Aaranya Biosciences introduces genomic health packages to help individuals assessgenetic health status. We have both invasive and noninvasive tests. From either blood or saliva swab, we can help you gain insight into your genetic disposition. Any disease or syndrome is due to gene abnormalities or mutation.
Trisomy 13 is the chromosomal disorder also called as Patau Syndrome. It is often characterized by intellectual, cognitive & physical abnormalities. There is an extra copy of Chromosome 13 in the cells.
When a certain gene causes disease due to mutation it is known as Single gene disorder. As a consequence, the genes which code for protein is either altered or missing.
Adenosine Deaminase (Ada) Deficiency
ADA Deficiency is characterized by severe combined immunodeficiency also known as SCID. The deficiency is caused by a single point mutation in the ADA gene. Individuals with ADA are prone to all sorts of infections.
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency develops lung and liver disease. SERPINA 1 gene mutation causes Alpha-1 antitrypsin deficiency and is an inheritable disorder. This means that it can be transferred from parent to children
Cystic fibrosis is a single gene disorder caused due to amutation in the CFTR gene. It is characterized by the buildup of thick, sticky mucus which can damage vital organs. It is an inheritable disease that can be transferred from parent to children.
Galactosemia is caused by amutation in the GALT, GALK1, and GALE genes. As the name suggests galactosemia disorder affects the way thebody breaks down simple sugar galactose. Galactose is a primary sugar of all dairy products and baby foods. There are three types of Galactosemia, Galactosemia Type I or Classic galactosemia is seen in infants. Galactosemia Type II has lesser clinical symptoms & Galactosemia Type III caused by a precursor enzyme deficiency.
Huntington disease is a brain disorder caused by the mutation of HTT gene. The disease is usually diagnosed in a persons thirties or forties. It is characterized by cognition loss, emotional problems, and uncontrolled movements.
Maple Syrup Urine Disease (Msud)
Maple syrup urine disease is caused by amutation in the BCKDHA, BCKDHB & DBT genes. This is a genetically inherited disorder. Individuals suffering from this disease cannot process amino acids properly. Amino acids are building blocks of proteins. It is characterized by asweet odor of urine.
Neurofibromatosis type 1 is a condition caused by amutation in NF1 gene. The disease is characterized by achange in skin pigmentation (color) and growth of tumor in along nerves in skin, brain & other vital organs. The chances of developing cancer are elevated in this condition.
Pachyonychia congentia is caused by the mutation in the genes KRT6A, KRT6B, KRT6C, KRT16, and KRT17. Nails and skin are primarily affected by this condition.
Phenylketonuria is caused by amutation in the PAH gene. This is an inheritable disorder resulting in the inability to break down the amino acid phenylalanine. Excessive buildup of phenylalanine is toxic to the cells and can damage vital organs.
Sickle cell disease is caused by amutation in the HBB gene responsible for theproduction of hemoglobin. The disorder affects the hemoglobin molecule responsible for delivering oxygen to the cells throughout the body. People affected with the disease typically have a characteristic sickle or crescent shaped red blood cell.
Smith-Lemli-Opitz syndrome is caused by amutation in the DHCR7 gene. This disease affects the production of cholesterol in the body. Growth and development of individuals are stunted with severe medical complications.
Cancer Screening using Genetic Testing
Early detection of cancer can be done using genetic methods to estimate the chance of developing cancer.Ideally, a genetic screen looks for specific changes ingenes/chromosome/proteins. Alteration/changesingenes/chromosome/proteins are called mutations.The screen looks for any such abnormalities in the genetic material.
Breast cancer is caused by amutation in the BRCA1 or BRCA2 genes. The disease is more common in women, however, it can equally affect men. The cancer is caused when the cells in the breast become abnormal and multiply to form atumor. Based on the location of the cell mutation they are classified into 2 types: Lobular Cancer & Ductal Cancer.
Colon& Rectal Cancer Screening
Hereditary nonpolyposis colorectal cancer (HNPCC) is a disorder that increases the chances of cancer particularly colon and the rectum. This disorder is also called Lynch syndrome.People with lynch syndrome often have noncancerous growth (polyps) in the colon, called colon cancer.
When certain cells in the lungs mutate abnormally and multiply uncontrollably to form a tumor it causes lung cancer.Lung cancer can be classified into two types: Small cell lung cancer & non-small cell lung cancer.Most people have a long term history of smoking tobacco.
Prostate cancer develops in middle age or later, the cells in the prostate become abnormal and multiply exponentially to form atumor. This disease is most common in older men and can be treated if diagnosed early. If left undiagnosed it can get progressive and spread across the body.
This disease affects many women around the world and is caused when the cells in the ovary mutate and divide abnormally. The resultant multiplication of uncontrolled cell growth forms a tumor. Ovaries are female reproductive organs that develop the egg. It has been noticed that cancer usually starts at the end of the fallopian tubes progressing to the ovaries.
It has been discovered that there are genes responsible for obesity which subsequently develops other diseases such as diabetes, arthritis, heart attacks etc. Researchers have studied the physiological pathways and lifestyles of several hundred thousand to understand the disease prognosis for Obesity. Obese patients have often been diagnosed with an affected Leptin receptor in the hypothalamus (a part of the brain known to control thirst & hunger).
Preimplantation Genetic Screening For Ivf Couples
Preimplantation genetic screening (PGS) looks up for themissing or extra chromosome that might cause abnormalities within an embryo. Couples taking the In-Vitro Fertilization (IVF) cycle are recommended to prescribe to PGS. We use highly efficient next-generation sequencing technology to look up the genetic abnormalities.
Newborn screening is involves testing babies of all genetic disorders within the first week of their birth. This prevents future health complications if the baby is born with any birth associated disorders. Early detection may prevent intellectual and physical disability.Currently many state governments in the country have successfully implemented the practice of newborn screening.
Carrier Screening Test For Couples
Carrier screening is ideal for couples who are planning for a baby. This test looks for genetic conditions that can be passed on from parent to children.