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Pathology Cytogenetics

Pathology Services

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COE for Cytogenetics

Medical genetics plays an important role in all the aspects of medical practice: prevention, screening, diagnosis, and management. About 60% of the pregnancy losses, 2-3% of all the neonates and 50% of childhood deafness, blindness, mental retardation and 1 to 10 % of all the malignancies are directly due to genetic factors. Realizing the importance and need of genetic services in our country, Dr. Hema Purandarey founded the Center of Excellence in Cytogenetics (CoX Cytogenetics) formerly known as Centre for Genetic Health Care (CGHC) in 1981, a pioneer Genetic Centre in the country.

Dr. Hema Purandarey, founder-director, eminently qualified for conducting the Centre, has been trained in all aspects of medical genetics at the most advanced centers / laboratories in the U.S.A., U.K. and Singapore. A team of Physicians adds to the credit of our center. Our skilled, trained and dedicated scientific officers and technical staff with the state-of-the-art equipment ensure the output of quality work. The centre has experience of more than 60,000 genetic referrals.


NABL (National Accreditation Board for Testing and Calibration of Laboratories), Government of India, (ISO/IEC-15189 Asia Pacific) for complete range of cytogenetic studies. (Blood, Bone marrow, Chorionic villi, Amniotic fluid and Products of conception).

Cytogenetic Testing

Cytogenetic testing (Karyotyping) can be done on various body tissues in prenatal or postnatal life. This test is for the study of chromosome pattern. Any addition, deletion or structural change in the chromosomes leads to various abnormalities.

Products of conception

In cases of early fetal loss 60% is due to chromosomal defects in the conceptus. Karyotyping of the products of conception assists in identifying the chromosomal factor and subsequent counseling and management for future pregnancies.

Prenatal Diagnosis

The tissues generally studied for prenatal diagnosis are chorionic villi, amniotic fluid and cord blood. All prenatal fetal tissue samplings are done as outpatient procedures, under ultrasound guidance. The patient needs to be adequately counseled for the choice, safety, specificity and sensitivity of the test. An informed written consent is a prerequisite for the test. In-house facility for the obstetric procedure and sonography is available at the centre. The samples are also accepted through centers licensed for fetal tissue sampling. Prior discussion with CoX-Cytogenetics before sampling is important.

Genetic Screening

Genetic screening helps to identify an individual who could be at risk for a genetic disorder or a birth defect, in prenatal or postnatal period e.g. Thalassemia, Neural tube defect, Huntington's disease, etc. Screening at times needs to be supplemented by diagnostic tests; early intervention helps in patient management. We offer pre-test counseling, interpretation and post-test counseling in these cases.

Biochemical Studies and Molecular studies

These tests are done in combination with the specialized centers. For these studies couples are counseled, samples are taken and forwarded, if required, to the specialized centers nationally and internationally. These studies are used in the diagnosis of inborn errors of metabolism. They can be performed on blood, urine or body fluids / tissues as per the clinical picture (phenotype) or the clinical impression of the physician.

Metabolic disorders can be inherited as an autosomal recessive, dominant or a sex linked condition. The diagnosis in an index case provides the basis for further management, recurrence risk estimation and prevention. The clinical presentation of many such diseases is often similar and many present in the neonatal period. Some of the clinical indications for testing include mental retardation, dysmorphology, myopathies, cardiomyopathies and storage disorders.

Genetics of Organ System Diseases

Genetic testing and counseling, besides being important for obstetric, gynecological, pediatric and oncological practice is also of great importance in case of organ system diseases.

Other Medical Disciplines

  • Cardiovascular diseases (congenital heart disease, familial hypercholesteremia)
  • Endocrine diseases (congenital hypothyroidism, adrenogenital syndrome)
  • Gastrointestinal diseases (hereditary pancreatitis, adenosis polyposis)
  • Hematological disorders (Blooms syndrome, ataxia telangiectasia, hereditary anemias, hemoglobinopathies)
  • Diseases of the skeletal muscles (spinal muscular atrophy, DMD, Becker's muscular dystrophy)
  • Neurological diseases (Friedrich's ataxia, Huntington's disease, epilepsy, neurofibromatosis, tuberous sclerosis)
  • Eye diseases (congenital cataract, retinoblastoma, retinitis pigmentosa)
  • Hereditary hearing loss (acoustic neuroma, prelingual hearing loss)
  • Renal disorders (polycystic kidney disease, chronic heredity nephritis)
  • Respiratory system disorders (cystic fibrosis, congenital bronchiectasis)
  • Heritable skeletal dysplasias (achondroplasias, osteogenesis imperfecta)
  • Disorders of skin (epidermolysis bullosa, congenital ichtyosis)
  • Hereditary defects of teeth and oral structures (dentinogenesis imperfecta)