Facilities & Services
We offer comprehensive genetic counseling, genetic testing and diagnostic services to individuals and families affected with genetic disorders. Clinical Genetics & Genetic Counseling: It involves the diagnosis, counselling and treatment of individuals and families with heritable disorders, risk assessment, and disease predisposition. Clinical geneticists give advice on appropriate management of the disorders, genetic testing, and reproductive options e.g. the availability of prenatal testing for a specific disorder and risk assessment of individuals and genetic counselling to family members. Common referrals are indicated for the following: Child with multiple congenital abnormalities with/without dysmorphic features Intellectual disability of unknown cause/ Neurological abnormalities Failure to thrive Bad obstetric history, Infertility, Primary amenorrhea Family history of sibling’s death of unknown cause Advanced maternal age Cancer risk assessment Pregnancies with high risk for aneuploidies Diagnostic Services: Karyotyping: It is a test to identify and evaluate the structure and number of chromosomes in a cell. Extra or missing chromosomes can cause problems with a child's growth, development, and body functions. A karyotype test can be done from peripheral blood, pre-natal tissue samples and bone marrow samples. The testing can be useful in the following scenarios: History of miscarriages Primary amenorrhoea /infertility Disorder of sexual differentiation Leukemia like CML, AML, MDS etc. Fluorescent in situ hybridization (FISH): It is a rapid technique that is used to assess the gain or loss of chromosomal segments. It is used for the detection of aneuploidy/ or to identify chromosomal translocation in cancer. This technique is commonly used for the following: Chromosomal aneuploidies – For major chromosomes (13, 18 & 21) Chimerism – Sex chromosomes Microdeletions – Syndromes such as Di-George, Angleman/ Prader-Willi, Williams-Beuren Syndrome Oncology – BCR-ABL, PML-RARA, MDS Panel, HER2-neu etc. Prenatal Diagnosis (PND): It is a diagnostic test in which a fetal sample (chorionic villi/amniotic fluid/cord blood) is taken out from the fetus and chromosomal/ known mutation testing in the family can be offered in order to identify the wellbeing of the fetus. These tests are used to identify fetuses for Chromosomal abnormalities like Downs’s syndrome, Edwards ‘syndrome, etc. Structural abnormalities, where parents are carriers for balanced translocation F/H/O Single Gene disorders: such as Thalassemia, Sickle cell anemia, Spinal muscular atrophy, Duchene muscular atrophy etc. Non-Invasive Prenatal Screening (NIPS): This is a DNA test on maternal blood to screen pregnancies for the most common fetal chromosome anomalies: trisomy 21 (Downs syndrome), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).The reliability of NIPS test results is 99%. This is a safer test which doesn’t pose any significant health risk to the fetus or mother. Biochemical Screening in Pregnancy: These tests (Double test, Quadruple test and pre-eclampsia) help to screen the fetus for Down's syndrome and the mother for preeclampsia. Biochemical screening for pregnant women at the Department of Medical Genetics is certified by the Fetal Medicine Foundation (FMF), making its reports authentic and acceptable across the globe. First-trimester screening (Free - hCG and PAPP-A) between 10 to 13 weeks 6 days Second-trimester screening (AFP - hCG, unconjugated estradiol and Inhibin A) between 14 to 20 weeks, 6 days Pre-Eclampsia Screening (PAPP-A and PLGF) between 11 to 13 week 6 days New Born Screening: It aims to screen the neonates for certain harmful or potentially fatal disorders that aren't otherwise apparent at birth. Early detection, diagnosis, and intervention can facilitate life-saving treatments and prevent progression towards a disability. Newborn Screening at the Department of Medical Genetics is a part of external quality assurance program at Center for Disease Control and Prevention (CDC), USA. The testing includes common seven parameters namely: Congenital Hypothyroidism Congenital Adrenal Hyperplasia Galactosemia Cystic Fibrosis G6PD deficiency Biotinidase deficiency Phenylketonuria Chromosomal Microarray: Latest high-throughput technology, which enables us to analyze the chromosomes at a greater depth, 100 times as compared to conventional karyotype. It has been recommended by International consortiums and become the first-line diagnostic test for post-natal and pre-natal conditions: Pre-natal/Abortus: Fetus with congenital abnormalities on Ultrasound scans Post natal: Child congenital birth defects, intellectual disability, autism, dysmorphism etc. Next Generation Sequencing (NGS): This allows the sequencing of multiple genes at the same time, and has dramatically accelerated the pace of management of cancer, Neurological disorders, inherited disorders and high-density HLA typing. Clinical Exome, Whole Exome and Whole Genome sequencing for patients help in identifying the cause when the diagnosis is not clear. Testing allows its broad application to diverse areas which are listed below: Oncology: BRCA1/2 gene testing, Hereditary cancers, Colorectal cancer etc. Neurology: Seizures disorders, Muscular Dystrophy, Nephrology: Polycystic kidney diseases, Alport Syndrome etc. Hematology: Fanconi anemia, Leukemia etc. Cardiology: Cardiomyopathy, Channelopathies, Aortopathy etc. ENT disorders: Congenital Deafness etc. Molecular studies: We utilize various conventional molecular techniques like PCR, RFLP, qPCR, MLPA and Sanger sequencing for the identification of common single gene disorders like beta-thalassemia, spinal muscular atrophy, Duchene muscular dystrophy, Cystic Fibrosis, Fragile X, Achondroplasia, Y-chromosome microdeletion etc. Pre-implantation Genetic diagnosis/screening (PGD/PGS) which is IVF + Genetic study, screening for known genetic disease in the family and chromosomal abnormality in the embryo. This helps in the prevention of genetic disease and increases IVF's success rate. In this technique, a healthy embryo is screened and implanted in the uterus. When an embryo is screened for chromosomal abnormality it is known as PGS/ when it is screened for known genetic disease in the family it is known as PGD.