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MEDICAL GENETICS

 

Overview

 

The recent advancement of research and knowledge in the field of medicine has led to the identification of the genetic basis of more and more diseases. The Medical Genetics at Kasturba Hospital is one of the few centers in the country which provides specialized services to patients and families with genetic disorders. We are committed to provide the best possible care.

 

Our services include clinical evaluation, genomic testing, management and counseling of patients and families with genetic diseases. As some of these disorders have significant mortality and morbidity and do not have a curative treatment we also offer prenatal diagnosis to such families. Provision for preconceptional counseling and carrier screening for couples with or without a prior history of genetic disorders in the family is also available. Our team of well-trained, dedicated medical geneticists, scientists and genetic counselors strive to give accurate and complete information based on the latest scientific knowledge. We put in our best efforts to address the unmet needs and concerns of these patients and provide answers.

 

In our endeavor to provide comprehensive genetic services under a single roof, the Medical Genetics is supported by a well-equipped laboratory. In collaboration with local, national and international laboratories, we provide state of the art diagnostic facilities for almost all groups of genetic disorders. Patients have an opportunity to participate in ongoing research projects as well. In addition, we provide diagnostic facilities for any rare disorder using the newer diagnostic technologies like microarray and next generation sequencing.

 

Services available

 

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

  • Malformation syndromes
  • Chromosomal abnormalities (Down syndrome, Turner syndrome, Klinefelter syndrome etc.)
  • Genetic anemia (Thalassemia, sickle cell disease, spherocytosis etc.)
  • Intellectual disability/development delay
  • Short stature
  • Skeletal dysplasia
  • Neurodegenerative disorders
  • Myopathies and muscular dystrophies
  • Inborn errors of metabolism including storage disorders
  • Disorders of sexual differentiation (Ambiguous genitalia)
  • Genetic bleeding disorders (hemophilia)
  • Deafness
  • Neural tube defects (anencephaly, meningomyelocele) and other congenital malformations
  • Primary amenorrhea and hypogonadism
  • Infertility
  • Exposure to teratogens during pregnancy
  • Familial cancers
  • Any familial / genetic disorder
  • Consanguinity

 

Laboratory facilities

  • Karyotyping from blood, tissues, chorionic villi, amniotic fluid and products of conception
  • Quantitative fluorescent PCR (QF-PCR) for rapid detection of aneuploidy in prenatal samples
  • Sanger sequencing for beta thalassemia, sickle cell anemia, achondroplasia, hypochondroplasia and many more single gene disorders
  • MLPA for Duchenne muscular dystrophy, spinal muscular atrophy, common microdeletion syndromes
  • TP-PCR for myotonic dystrophy, Huntington disease, Fragile X syndrome
  • Biochemical testing for inborn errors of metabolism (TMS, GCMS, enzyme assays)
  • Chromosomal / SNP microarray
  • Next generation sequencing (whole exome sequencing / gene panel testing)

 

Prenatal diagnosis and genetic counseling

  • Aneuploidy screening test (Dual/triple/quadruple marker, Non- invasive prenatal screening)
  • Scanning for fetal malformations by ultrasound
  • Chorionic villus sampling
  • Amniocentesis
  • Cordocentesis

 

Fetal autopsy

In case of stillbirths of unknown cause and fetuses terminated after ultrasonographic detection of malformations, detailed radiologic study and autopsy helps in providing a definitive diagnosis of the condition. This is useful in identifying the etiology in many cases and counseling the family about the recurrence of the same condition in next pregnancy and offering prenatal diagnosis. Fresh fetuses can be sent to us in saline. Otherwise fetuses can be sent in 10% formalin (with 2 inch umbilical cord in saline).

OUR DOCTORS

Dr. Girisha KM

Professor & HOD
Medical Genetics
(Kasturba Hospital)
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Dr. Anju Shukla

Associate Professor
Medical Genetics
(Kasturba Hospital)
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