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). .

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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. Primary, secondary and tertiary analysis is performed to generate a list of annotated variants that are relevant to the sample. Finally, a genetic testing report that is in line with the American College of Medical Genetics (ACMG) recommendations for reporting is developed, and reviewed and approved by the Lab Director.

Newborn Genetic Screening in Kenya – Simple Cheek Swab Test

Why Newborn Screening is Important

Early detection of conditions such as PKU and metabolic disorders helps prevent developmental delay, cognitive impairment, liver disease, and other life-threatening complications.
Unlike traditional metabolic screening, our genetic test identifies underlying gene mutations even when no metabolic markers are present.
Faster and more reliable diagnosis by eliminating multiple assay steps used in conventional newborn screening.
More robust testing: works even with samples rejected in traditional screening due to contamination or handling issues.
Comprehensive screening panel covering over 100 genes associated with inherited conditions in newborns.
Cost-effective and highly accurate newborn genetic testing in Kenya.
Fast turnaround time: results available within 10 working days for early diagnosis and treatment.

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What information is reported in the test report?

The variant data collected is analyzed.
All clinically significant variants that are classified as pathogenic or likely pathogenic as identified in the latest clinical and scientific publications and databases are reported.
Variants that are identified with unknown significance but fall within a protein-coding region and are predicted to effect a protein change are also reported.
Please note, benign and likely benign variants, as well as Single Nucleotide Polymorphisms (SNPs) are not reported.

View a Sample Report