CHILD HEALTHLINE : +91 82388 06666

Departments
Pediatric Surgery
Pediatric Orthopaedics
Pediatric Neurology
Pediatric Gastroenterology
Pediatric Haematology
Pediatric Intensive Care
Neonatal Intensive Care
Medical Genetics
Pediatric Dental Care
Pediatric Endocrinology
Pediatric Emergency & Trauma Service
Quick Links
About Hospital
Departments
Services
Doctor Timing
Find A Doctor
Specialities :
Doctor :
 
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

Services:

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

Facilities:

• 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