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Introduction
The Molecular Diagnostics Division at Narayana Hrudayalaya extends fast, accurate, cutting-edge genetic diagnostic tests for patient management and research purposes. The following laboratories at Narayana Hrudayalaya have state of the art facility with trained personnel. Each laboratory is headed by a certified consultant. The tests are performed under strenuous quality control and the results are precise and reliable.
Laboratories
- Molecular Genetics
- Molecular Oncology / Immunology
- Cytogenetics
- Metabolic Disorders
Introduction
Molecular genetics is the field of biology wherein the structure and function of genes are studied at a molecular level. Molecular genetics helps in understanding genetic mutations that can cause certain types of diseases. A protein encoded by a mutated gene may malfunction and cells that rely on the protein might be affected. This can cause problems for specific tissues or organs, or for the entire body. Hence a mutation in a gene can result in a severe medical condition. Gene mutations can be either inherited from a parent (inherited) or acquired (spontaneous).
When inherited from parents, the mutations will be present in all of the child's body cells. Hence, it is possible to use cheek cells or a blood sample for gene testing. Many genes come in a number of variant forms; a dominant allele (prevails over a normal allele) and a recessive allele (prevails if its counterpart allele on the other chromosome becomes inactivated or lost).
In Genetic testing the changes in chromosomes, genes, or proteins are detected. Most of the time, testing is used to find changes that are associated with inherited disorders. The results of a genetic test can confirm or rule out a suspected genetic condition. This helps the doctor to determine a person’s chance of developing or passing on a genetic disorder.
Genetic testing has both benefits and limitations hence it is requested by a doctor only if required. A genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.
- Services offered
- DMD deletion screening
- Spinal Muscular Atrophy (SMA) molecular diagnosis
- Factor V Leiden mutaion
- Prothrombin gene polymorphism (G20210A)
- Y chromosome deletions
- Cystic fibrosis - CF Diagnosis (Delta 508 mutation)
- Folate polymorphism 3'5 MTHFR - ( 677C>T, 1298A>C )
- Fragile X syndrome screen - PCR based
- Mitochondrial / LEIGHS - 3 mutations
- Mitochondrial / MELAS - 3 mutations
- Mitochondrial / MERRF - 2 mutations
- Mitochondrial / NARP - 2 mutations
- Team
- Customer helpline: 22152215
- moleculardiagnostics@hrudayalaya.com
i. Molecular Oncology (Cancer diagnosis)
The establishment of cancer is multifactorial, with genetic, environmental, medical, and lifestyle factors. These factors by interacting produce a given malignancy (cancer) in a period of time. Many inherited cancer-predisposing traits are autosomal dominant hence the cancer susceptibility occurs when only one copy of the altered gene is inherited. DNA-based testing can be used to identify a specific mutation as the cause of inherited risk and to determine whether family members have inherited the disease-related mutation. The knowledge about a cancer-predisposing mutation can be informative not only for the individual tested but also for other family members.
Molecular oncology tests help in our understanding of cancer biology, to identify at-risk individuals and to characterize malignancies. Many types of cancer are preventable and treatable if detected at an early stage. The proper diagnosis of cancer leads to establishing treatment tailored to the molecular fingerprint of the disease, and the development of new therapeutic modalities. As a consequence, this expanding knowledge base has implications for all aspects of cancer management, including prevention, screening, and treatment.
- Services offered
- BRCA1/BRCA2 mutation screening
- KRAS mutation detection
- TP53 deletion / duplication
- VHL gene deletion / duplication
- DPD mutation detection
- PTEN mutation screening
- MEN1 GENE mutation
- Molecular Immunology
Introduction
HLA (Human Leukocyte Antigen) typing refers to tissue type matching for transplant purposes. HLA antigens, reside on the surface of all body cells, are generally detected on the surface of white cells (leukocytes) from a blood specimen. These antigens regulate how the body can recognize and reject foreign tissue. HLA antigens are distinct from the blood group (A, B and O) and Rhesus factor (Rh) antigens found on red blood cells. The immune system uses the HLA to differentiate self cells and non-self cells. Any cell displaying that person's HLA type belongs to that person. Any cell displaying some other HLA type is "non-self" resulting in the rejection of the tissue bearing those cells (the cause of organ transplant rejections). Because of the importance of HLA in transplantation, the HLA loci are among of the most frequently typed by serology or PCR methods.
HLA types are inherited, and some of them are connected with autoimmune disorders and other diseases. People with certain HLA antigens are more likely to develop certain autoimmune diseases, such as Type I Diabetes, Ankylosing spondylitis, Celiac Disease, SLE (Systemic Lupus Erythematosus), Myasthenia Gravis and Sjögren's syndrome. HLA are also important in disease defense. They may protect against or fail to protect (if down regulated by an infection) cancers.
- Services offered
- Crossmatch for microlymphoctyotoxicity
- HLA A-B-DR typing organ transplant
- HLA A-B-C & DQ-DR typing for bone marrow transplant
- HLA B27 detection (for arthritis)
- Team
- Customer helpline: 22152215
- moleculardiagnostics@hrudayalaya.com
Introduction
Cytogenetics is the study of chromosomes – the condensed form of DNA in every cell. In normal cells there are 49 chromosomes (23 pairs of which, 1 pair determines the sex of an individual; XX is female and XY is male). The changes related to aberrant chromosomes or chromosome number, are identified and linked to a disease type. The change in chromosome number is known as aneuploidy (additions or deletions of entire chromosomes). For example, Down syndrome exhibits an extra copy of chromosome 21 referred to as trisomy 21. Trisomy 13 is associated with Patau's Syndrome and trisomy 18 with Edward's Syndrome. Numerical abnormalities are seen in sex chromosomes also; Turner syndrome with only one sex chromosome (the X), Klinefelter's Syndrome with an additional X chromosome in a male, resulting in 47 total chromosomes
Aberrant chromosomes are associated with diseases like cancer and identifying those helps in clinical diagnosis of cancers. In the white blood cells of patients with Chronic Myelogenous Leukemia (CML) an abnormal chromosome (a translocation of chromosomes 9 and 22) called as Philadelphia chromosome is seen. In cancer treatment with anticancer drugs the disappearance of this aberrant chromosome indicates the response to the treatment.
Fluorescent in situ hybridization (FISH)
Fluorescent in situ hybridization refers to using fluorescently labeled probe to hybridize to cytogenetic cell preparations. This enhances the detection of minute differences in the aberrant chromosomes which may go undetected by routine cytogenetics methods.
- Servicesoffered
- Blood Chromosome studies (structural and numerical abnormalities0
- Specific translocation detection
- Team:
Introduction
Metabolic disorders also referred as inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes participating in cellular functions. In most of the disorders, due to enzyme defect, the substances they act upon get accumulated. The accumulation of substances is toxic or interferes with normal function, or affects the ability to synthesize essential compounds. The inherited metabolic diseases are categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.
Many congenital metabolic diseases are now detectable by newborn screening tests, especially the expanded testing using mass spectrometry. Detecting the specific enzyme defect at very early stage may be life saving. Diagnosis of the proper disease results in earlier treatment and a better outcome.
Because of the multiplicity of conditions, many different diagnostic tests are used for screening. An abnormal result is often followed by a subsequent "definitive test" to confirm the suspected diagnosis. The primary treatment for some of the amino acid disorders iss restriction of dietary protein and all other care is the management of complications. With the advent of newer techniques, treatments like enzyme replacement, gene transfer, and organ transplantation have become available and beneficial for many previously untreatable disorders.
- Servicesoffered
- Screening of amino acids, organic acids and fatty acids in urine and blood
- Screening for Mucupolysaccharides
- Team
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