Newborn Screening

Newborn Genetic Test in Kenya

Newborn Screening finds out if newly born babies, infants, or children have certain serious medical conditions so that they can be treated before they become sick.

Newborn screening identifies metabolic conditions such as galactosemia and PKU in newborns at birth. If left undetected, these conditions can cause serious disorders. For instance, undetected phenylketonuria (PKU) can lead to mental retardation. However, if detected at birth, the baby can be placed on a special diet and will lead a normal life.

The disorders screened by this genetic test have symptoms that may not be apparent at birth. However, symptoms for these conditions can manifest quickly, pose a critical threat to the health or future development of the infant and require urgent treatment. Early detection of life-altering conditions that could have a simple yet meaningful clinical management is possible, and allows for early, pro-active interventions that will benefit the infant’s health and quality of life.

Genes Tested

Our Newborn Screening Panel tests for genes associated with 106 conditions as identified by the American College of Medical Genetics (ACMG) and as recommended by The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC).

View Gene Panel

How is the Newborn Test performed?

Cheek swabs or Dried blood spot (DBS) samples are collected after birth. Genomic DNA (gDNA) is extracted from the sample and subjected to targeted-sequencing based on NextGen sequencing technology. A total of 106 genes associated with metabolic processes are analyzed.