Overview
Services offered by Department of Medical Genetics: Clinical services (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).