Genetics Clinic
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Genetics Clinic

Overview

It is heartening to note that enormous research in the field of genetics in the last two decades has started to benefit the mankind. The genetic bases of more and more diseases are now being uncovered and it is now even possible to prevent the birth of babies with serious disorders incompatible with reasonable quality of life. In this regard, Manipal Hospital offers clinical genetics services maintaining its tradition of providing the best medical care to the patients.

The Genetics Clinic is providing clinical evaluation, diagnosis, management and counselling facilities to patients with genetic diseases. In association with Manipal Life Sciences Center, we offer karyotyping, fluorescence in situ hybridization, molecular diagnosis and biochemical evaluation to various genetic disorders. The clinic has strong laboratory support from haematology, biochemistry, microbiology and pathology which may be needed for the patients with genetic disorders. The DNA diagnostic tests for thalassemia, sickle cell disease, Duchenne muscular dystrophy, spinal muscular atrophy, haemophilia etc are provided for diagnosis of patients, carrier detection and prenatal diagnosis.

For providing genetic counselling and prenatal diagnosis to the family, examination and detailed investigations of the affected person/child and the family are essential. These should be preferably done before planning the next pregnancy or at least as soon as the pregnancy is detected. Targeted ultrasonography for prenatal diagnosis of malformations and multiple malformation syndromes is done in routine and high-risk pregnancies. Prenatal diagnosis by chorionic villus sampling (CVS), amniocentesis and fetal blood sampling are done for the above conditions and also for cytogenetic abnormalities. Chromosomal analysis of fetuses with ultrasonographically detected malformation/s helps in counselling the families.

Treatments & Procedures

Clinical services (Evaluation, Diagnosis, Counseling, Management and Prenatal Diagnosis)

  • Malformation Syndromes
  • Chromosomal abnormalities (Down syndrome, Turner syndrome, Klinefelter syndrome etc)
  • Genetic anaemia (Thalassemias, spherocytosis etc.)
  • Mental retardation/development delay
  • Short Stature
  • Skeletal Dysplasias
  • Neurodegenerative disorders
  • Myopathies
  • Inborn errors of metabolism including storage disorders
  • Ambiguous genitalia
  • Genetic bleeding disorders (haemophilia)
  • Deafness
  • Neural tube defects (anencephaly, meningomyelocele) and other congenital malformations
  • Primary amenorrhea and hypogonadism
  • Advanced maternal age (> 35 years)
  • Infertility
  • Exposure to teratogens during pregnancy
  • Familial cancers
  • Any familial/genetic disorder

 

Laboratory facilities

  • Karyotyping from blood, tissues, chorionic villi, amniotic fluid and products of conception
  • Fluorescence in situ hybridization (FISH) for chronic myeloid leukaemia
  • Quantitative fluorescent PCR (QF-PCR) for rapid detection of aneuploidy in prenatal samples
  • Molecular diagnostic services and prenatal diagnosis for beta thalassemia, sickle cell anaemia, Duchenne muscular dystrophy, spinal muscular atrophy, myotonic dystrophy, achondroplasia, hypochondroplasia, Prader-Willi syndrome, Angelman syndrome, fragile X syndrome, linkage analysis for haemophilia A and B and many more disorders.
  • Biochemical testing for inborn errors of metabolism.

 

Prenatal diagnosis and genetic counselling

  • Scanning for fetal malformations by ultrasound
  • Chorionic villus sampling
  • Amniocentesis
  • Cordocentesis

 

Fetal autopsy

In case of stillbirths and fetuses aborted after ultrasonographic detection of malformations, detailed radiologic study and autopsy help in providing a definitive diagnosis of the condition. This is useful in identifying the aetiology in many cases and counselling the family about the recurrence of the same condition in next pregnancy and offering a prenatal diagnosis. Any unexplained fetal loss also needs to be investigated.

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