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.

Only a simple Cheek Swab is Required

Why The Newborn Screening Test?

Prompt identification and timely treatment of affected infants could prevent or minimize serious, life-long consequences such as Developmental delay, Cognitive impairment, Physical disability, Mental delay, Liver disease, Blindness, Neurological degeneration, Malnutrition, or Premature death.

Traditional tests look for metabolic markers and this is disadvantageous as such tests cannot identify genetic conditions that don’t have metabolic markers. Our test is a genetic test that identifies variations in the genetic code known to be tied to those conditions. The metabolic markers in the blood are irrelevant.

Traditional newborn screening involves a series of assays and may ultimately require a genetic test to validate the earlier findings. Our carrier screening test skips all these assays hence allow a quick and more reliable diagnosis to be made.

More robust. The utility of newborn screening is usually reduced due to errors in sample collection. Such errors arise due to contamination from urine, body fluids or glove powder; layering, inadequate drying and oversaturation. We can use most samples that have been rejected by the traditional screening process since we are looking for defects in the underlying genetic code and not the by-products of those defects.

Comprehensive test. Our screening panel identifies mutations in 106 genes in newborns. As new conditions are identified and can be tied to specific genes, these are added to our screening panel.

Our test is cost-effective and accurate.

Quick turnaround. Results are typically ready within 10 working days. This allows an early diagnosis to be made and early commencement of treatment.

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1200

Completed DNA Tests

3210

Happy Clients

3781

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Why Test with us?

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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.

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