Genetics Group of Gujarat Diagnostic Centre

What we can diagnose at our centre:

Chromosome abnormalities (numerical or structural or both) which are related to well known genetic disorders; Down syndrome (trisomy-21), Trisomy-18 or E syndrome, Trisomy-13 or Trisomy D (Patau syndrome), Turner’s syndrome (45,XO), Klinefelter’s syndrome (47,XXY), Trisomy-X, Mosaicism or mixoploidy (due to sex chromosomes or autosomes), Cri du chat syndrome (deletion of short arm of 5th chromosome), 4p monosomy, 4p trisomy, 5p trisomy, 8 trisomy, 9p trisomy, fragile X-syndrome, translocations etc.

Microarray of chromosomes technique can identify minor deletions, duplication of chromosomes which are usually not detected by conventional chromosome analysis.

Genetic diseases developed due to different mutations in our functional genome. The diseases which are common in our society are minor and major Thalassemia, Sickle cell anemia (hemoglobinopathies), Parkinson’s (old age neurological disease), Phenylketonuria, Niemann-Pick disease, cystic fibrosis, mental retardation, muscular dystrophies, cancers etc.

Semen testing can elucidate the quality and quantity of sperms by using different parameters; volume and colour of semen, sperm concentration, progressive sperm motility, live & dead sperm count or ratio, morphological integrity and viability, functional integrity, acrosome integrity, sperm morphology etc.