Importance of Carrier Screening
Carrier screening detects if one carries genes for conditions such as metabollic disorders,infertility, cystic fibrosis, sickle cell disease, thalassemia, Tay-Sachs disease, among others. These conditions occur in children when both parents carry mutated genes. Carrier screening therefore enables people who are intending to get married and have children together to find out if they have such genetic mutations and hence at risk of getting children with such conditions. This knowledge helps them to plan accordingly. Based on the results, they can decide not to get married or not to have children. If they decide to get married and have children, we will empower them with information on how to take care of children with genetic defects.Whether or not hereditary diseases run in your family, carrier screening can provide important information for family planning.
Genes Tested
Our Carrier Screening Panel tests for 92 genes associated with 71 conditions. In the panel are 32 core conditions and 26 secondary 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). Click here the tab below to view all the conditions that we test for in our Newborn Screening Test.
View Panel
Required Samples
For carrier screening, we accept the following samples:
- Dried-blood spots
- Whole blood
- Buccal swabs
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 700 USD or 70,000 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.
