DISORDERS INCLUDED IN NEWBORN SCREENING

A few drops of blood are taken from the baby’s heel. The blood is sent to a lab for analysis. Screening tests do not diagnose illnesses. They show which babies need more testing to confirm or rule out illnesses.If follow-up testing confirms that the child has a disease, treatment can be started, before symptoms appear. Blood screening tests are used to detect a number of disorders.
  • Biotinidase deficiency
  • Fatty acid metabolism disorders
  • Amino acid metabolism disorders
  • Organic acid metabolism disorders
  • Sickle cell disease and other hemoglobin disorders and traits
  • Cystic fibrosis (CF)
  • Biotinidase deficiency
  • Fatty acid metabolism disorders
  • Amino acid metabolism disorders
  • Organic acid metabolism disorders
  • Sickle cell disease and other hemoglobin disorders and traits
  • Cystic fibrosis (CF)

Healthy new born is the best promise for the future.

Healthy new born is the best promise for the future.

Disorder ScreenedEffect if NOT SCREENEDEFFECT if SCREENED and managed
Congenital Hypothyroidism (CH)Severe Mental RetardationNormal
Congenital Adrenal Hyperplasia (CAH)DeathAlive and Normal
Galactosemia (GAL)Death or CataractAlive and normal
Phenylketonuria (PKU)Severe Mental RetardationNormal
G6PD DeficiencySevere anemia, death or permanent neurological damagenormal
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