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 Screened Effect if NOT SCREENED EFFECT if SCREENED and managed
Congenital Hypothyroidism (CH) Severe Mental Retardation Normal
Congenital Adrenal Hyperplasia (CAH) Death Alive and Normal
Galactosemia (GAL) Death or Cataract Alive and normal
Phenylketonuria (PKU) Severe Mental Retardation Normal
G6PD Deficiency Severe anemia, death or permanent neurological damage normal
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