In this comprehensive panel test, all chromosomal abnormalities in the fetus are investigated, and in addition, prospective parents are screened for more than 1,000 diseases.
What is BabySEQ?
BabySEQ is a high-reliability NIPT (Non-Invasive Prenatal Screening) method. Without requiring any invasive procedures that may carry risk, BabySEQ is a next-generation screening test that evaluates all chromosomal number abnormalities and microdeletion/microduplication disorders that may be present in the fetus. Currently, tests such as BabySEQ that utilize “whole genome sequencing” technology achieve the highest known success rates in screening for these conditions. The analyses of the BabySEQ test designed at our center (including bioinformatics analyses) are also performed in-house at INTERGEN.
What is BabySEQ XL?
This package includes the following components:
- Expanded BabySEQ Panel from the Fetus:
- From the Mother and Father: Whole Exome Sequencing and assessment of high-risk conditions associated with high mortality and morbidity
- Additionally, MLPA testing is performed for congenital adrenal hyperplasia
- From the Mother: Fragile X Repeat Number
In this comprehensive panel, all chromosomes and microdeletions/duplications in the fetus are evaluated for disease risk. In addition, expanded gene screenings performed on samples from both parents enable carrier screening for more than 1,000 diseases. If a risk is identified for the fetus, both the clinician and the family will be informed, and additional tests will be planned if necessary based on the results.
For this test, it is recommended to collect one tube of blood from the father in a purple-top tube, and one tube of blood from the mother using the BabySEQ blood collection tube provided by INTERGEN.