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Department of Medical Genetics & Genetic Counseling

Dr. Sheetal Sharda

MD (Paediatrics), DM (Medical Genetics)

One of the first specialized centers in Gujarat to provide a comprehensive Medical Genetics Service Center.

Besides serving as a clinical diagnostic and research facility, it provides Genetic Counseling Services for varied genetic conditions.

Highly qualified, trained and experienced Medical Geneticist &Counselor


Comprehensive Newborn Screening Services (NBS)

Diagnosis of metabolic and genetic disorders in newborns, infants , children and even adults presenting with unexplained developmental delay, neurological symptoms, and mental retardation

Clinical evaluation and diagnosis of congenital malformations, short stature, mental retardation & autism, neuro-genetic disorders, muscular dystrophies, Thalassemia, Hemophilia.

Genetic Counseling for recurrent abortions, pregnancy screening, prenatal diagnosis, familial genetic disorders, cancers


• Genetic testing
 Cytogenetic tests: Chromosomal studies in blood, F.I.S.H studies for micro deletion syndromes, Cancer Cytogenetics, Cytogenetic Microarray, SNP array.
 Molecular Tests: Molecular genetic studies for confirming genetic disorders eg. Thalassemia, Sickle Cell disease, Hemophilia, Muscular dystrophies, SMA, SCA, Deafness, Albinism, Ichthyosis, Inborn errors of metabolism, Cystic fibrosis, Congenital adrenal hyperplasia, etc.
 Biochemical Tests: Enzyme assays for Lysosomal storage disorders , Amino acid HPLC, GCMS for diagnosis of IEM,
 Newborn screening by TMS.
• Prenatal screening: for chromosomal syndromes by Dual/ triple/quadruple tests for screening
• Prenatal diagnosis: for any genetic disorder confirmed in the index case
• Amniotic fluid and chorionic villus samples for diagnosis of fetal abnormalities
• Peri-conceptionalCounseling: recurrent pregnancy loses, infertility, previous child with genetic disorder and malformed fetus