Importance of Newborn Screening

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 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.

Why Test with us?


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 92 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 5 working days. This allows an early diagnosis to be made and early commencement of treatment.


Required Samples

For carrier screening, we accept the following samples:
  1. Dried-blood spots
  2. Whole blood
  3. Buccal swabs for adults and children who are not breastfeeding
Samples may be collected any time after birth. It is strongly recommended that samples be taken immediately after birth.


How is the Newborn Test performed?

Dried blood spot (DBS) samples are collected after birth. Genomic DNA (gDNA) is extracted from the DBS sample and subjected to targeted-sequencing based on NextGen sequencing technology. A total of 92 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.


Turnaround Time

Results are typically out within 7 working days after receipt of all samples.


Pricing and Payment Information

The total cost for one test is 500 USD or 50,000 kshs.


Partners

We collaborate with Baby Genes Inc, a CLIA-accredited facility in Colorado, USA in our carrier screening tests.


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.