Department of Medical Genetics
Clinical and Laboratory Services

      • Patient Care

      • The department provides comprehensive medical care to patients with genetic disorders. This includes diagnosis and management of genetic diseases, and prenatal diagnosis. The department conducts general outpatient clinic for genetic disorders thrice a week (Monday, Tuesday and Thursday). Major clinical presentations that the department sees are: chromosomal disorders, monogenic disorders, mental retardation, neural tube defects and other congenital malformations, multiple malformation syndromes, bleeding and coagulation disorders, hemolytic anemias, short stature, skeletal dysplasias, myopathies, neurodegenerative disorders, ataxia, hypogonadism (male/female), ambiguous genitalia, inborn errors of metabolism, and familial disorders. The department also provides hyper-transfusion therapy for patients with thalassemia major and treatment of genetic disorders of coagulation like hemophilia and von Willebrand disease.

        Genetics counselling is an important part of management of patient/family with a genetic disorder. Counseling is based on confirmation of diagnosis, good communication skills in local language and sympathetic attitude towards the affected family.
         

      • Prenatal Diagnosis

      • Prenatal diagnosis is available for the following disorders:
          Congenital malformations and multiple malformation syndromes
          Chromosomal disorders
          Beta and alpha thalassemias
          Hemoglobinopathies like sickle cell disease and hemoglobin E
          Duchenne's/Becker's muscular dystrophy
          Hemophilia A
          Spinal muscular atrophy
      • Laboratory tests

      •  The department has well-equipped clinical-cum-research laboratories which perform several tests for genetic diseases.

        Cytogenetic investigations

          Karyotyping from peripheral blood, fibroblasts, amniotic fluid and chorionic villi


        Investigations for hematological diseases 

          Red Cell indices
          Osmotic fragility curve
          Sickling test
          HbF and Kleihauer test
          Hemoglobin electrophoresis
          Alpha and beta thalassemia screening and DNA testing for thalassemia 
          Globulin chain separation analysis by HPLC
          Micro-column chromatography for HbA2 quantitation
          DNA testing for gene structural variants like HbS, HbE and HbD
          Heinz body test
          Pyruvate kinase test
          Plasma hemoglobin
          Serum iron, ferritin and total Iron Binding capacity (TIBC) 
          Qualitative and quantitative analysis of G6PD
          Carrier detection and prenatal diagnosis of hemophilia A


        Biochemical investigations 

          Screening for inborn errors of metabolism
          Paper chromatography for urinary aminoacids
          Thin layer chromatography for plasma aminoacids
          Porphobilinogen


        Immunogenetic (HLA) investigations
        These include HLA typing service for renal and bone marrow transplantation programmes of the institute. Various investigations offered are:

          HLA (class I and II) typing 
          First and final cross match 
          Panel reactive antibodies 
          Chimerism studies for engraftment/rejection of bone marrow transplant
          HLA B27 detection
          Paternity test


        Investigations for neuromuscular disorders 

          DNA linkage and mutation analysis for Duchenne and Becker muscular dystrophies
          DNA mutation analysis for spinal muscular atrophy
          DNA analysis for Fragile-X syndrome
           
        Fetal autopsy services
        The department provides detailed radiographic studies and autopsy facilities for definitive diagnosis of (a) still births with malformation(s), and (b) malformed fetuses (diagnosed based on ultrasonograhy and aborted). This helps in accurate counseling regarding recurrence risk and better prenatal diagnosis during next pregnancy. 

        The fetus can be sent without any preservative if it is sent immediately and during working hours (9AM to 5PM). If delay of more than 5-10 hours is likely, the fetus should be sent in 10% formalin. In addition, 1-2 ml of fetal blood collected aseptically in a syringe containing 2 drops of heparin or heparin vacutainer should be sent alongwith the fetus for chromosomal studies. Delay up to 24 hours is permissible.
         
         

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