Dr. Mamta Muranjan

Consultant - Clinical Genetics

M.B.B.S, M.D.

Clinical Genetics

Clinical genetics is the practice of medicine involving diagnosis, management and counselling people with hereditary disorders. It refers to the application of genetics to medical care. Examples of conditions that fall within the scope of clinical genetics include birth defects and dysmorphology, intellectual disabilities, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, generators [disambiguation needed], and prenatal diagnosis.

  • Parents or relatives of an individual with a genetic disorder, birth defect or a chromosomal abnormality or with conditions/ disorders that 'run' in the family
  • Individuals, themselves or with family member(s) having unusual birth marks or skin lesions
  • Short stature (dwarfism) unusual for the family, especially when accompanied by short or bent bones or short torso
  • Children with unusual facial appearance, often accompanied by birth defects or developmental delay
  • Clustering of symptoms or abnormalities in multiple organs/systems
  • Recurring symptoms not explained by common disorders/ conditions
  • Delay or lack of sexual maturation like late or non-achievement of menses
  • Couples with reproductive difficulties like difficulty becoming pregnant or recurrent pregnancy losses (miscarriages/stillbirths) or early infant deaths.
  • Couples who are blood relatives (consanguinity).
  • Pregnant women or their babies exposed to medications/ drugs/ Xrays/ radiations/ infections (teratogens).
  • Women older than 30 years of age who are pregnant or planning a pregnancy.
  • Children with developmental delay or mental retardation or progressive decline of intellect or poor school performance.
  • Unexplained deafness or poor vision, cancers, muscle disease or such problems in many family members.
  • Individuals at increased risk of genetic diseases because of ethnicity.
  • Abnormal result of newborn screening test
  • Prenatal diagnosis of a genetic condition or an abnormality detected on ultrasonography during pregnancy.

Each patient undergoes a diagnostic evaluation tailored to the signs and symptoms exhibited. According to the diagnosis, the geneticist will recommend tests required to arrive at the correct diagnosis. These tests might evaluate for chromosome disorders, inborn errors of metabolism, or single gene disorders.