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Patient Services

Department of Medical Genetics

We offer comprehensive genetic counselling, genetic testing and diagnostic service to individuals and families affected with genetic disorders. The Department of Medical Genetics is complete with a modern Cytogenetic (Cytogenetic is the study of chromosomes and chromosome abnormalities) laboratory using computerized image analysis system. Fluorescent in- situ hybridization (FISH) studies for various conditions like chromosomal aneuploidies, leukaemia, translocations etc. The unit comprises of a talented team of doctors, genetic counsellor and cytogeneticists, who work closely together to provide the latest information about procedures to detect a wide range of genetic problems in an unborn foetus. It aims to cater to problems such as birth defects, intellectual disability, autism, developmental delay etc. Preconception medical geneticists assist in the evaluation and counselling of infertile couples or couples with repeated pregnancy losses, and discuss issues related to prenatal diagnosis egs, abnormal ultrasound finding, positive maternal serum screens, family history concerns etc. The unit of Genetics works closely with various other super specialty departments, like Fetal Medicine, Obstetrics and Gynaecology, Paediatrics, Oncology, and Dermatology, in providing the patient with a multi-disciplinary approach, which in turn provides a holistic solution to their problems. Primary Services offered under Department of Medical Genetics are:

Clinics Diagnosis and Genetic Counselling
  • Bad obstetric history
  • Children with dysmorphic features
  • Intellectual disability of unknown cause
  • Neurological abnormalities
  • Failure to thrive
  • Disorders of sexual differentiation and ambiguous genitalia
  • Family history of sibling's death of unknown cause
  • Neural tube defects
  • Advanced maternal age
  • In-born errors of metabolism
  • Cancer Risk assessment & counselling
Peripheral Blood Karyotyping for:
  • Multiple congenital anomalies
  • Developmental delay / intellectual disability/ prenatal growth retardation
  • History of miscarriages or reproductive problems
  • Primary amenorrhoea / infertility
  • Ambiguous genitalia
  • Chromosome instability syndromes
Prenatal Diagnosis
  • Chorionic villi culture and analysis
  • Amniotic fluid culture and analysis
  • Cord blood Karyotyping
  • Abortus material (Products of conception)
Biochemical Screening in Pregnancy
  • First trimester screening (Free b-hCG and PAPP-A) between 10 to 13 weeks, 6 days)
  • Second trimester screening (AFP. b-hGG, unconugated estriol) between 14 to 20 week, 6 days)
FISH
Bone Marrow - Cytogenetic & FISH Studies in Leukaemia like CML, AM L, M DS etc.
Molecular Studies for the Following Disorders
  • Duchenne Muscular Dystrophy (DMD)
  • Spinal Muscular Atrophy (SMA)
  • Beta-Thalassaemia
  • Sickle-cell disease
  • Fragile X syndrome
  • Congenital deafness
  • Congenital adrenal hyperplasia
  • Y- Microdeletion
  • Cancer
  • Other genetic disorders
Enzyme Studies for Common Metabolic Disorders
  • Phenylketonuria
  • Homocystinuria
  • Galactosemia
  • Glycogen storage disorders
  • Mucopolysaccharidoses
  • Tay-Sachs disease
  • Niemann-Pick disease
  • Metachromatic leukodystrophy
  • Other inborn errors of metabolism
DNA Extraction and Storage
Computerised Database
  • POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations)
  • London Dysmorphology Database
  • London Neurogenetics Database
  • McKusicks Mendelian Inheritance