Persistent fatigue, easy bruising, and frequent infections in children might signal inherited blood disorders, not just typical childhood ailments. Early detection through genetic testing is crucial ...

Bionano Genomics, Inc. (Nasdaq: BNGO) today announced that studies featuring optical genome mapping (OGM) at the 2026 European Society of Human Genetics (ESHG) ...

Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving variable size deletions of the 4p16.3 region. Seizures are frequently, but not always, associated with WHS.

Definition: A microarray is a small, flat substrate carrying an ordered grid of microscopic probe features, each containing a known biological molecule, that is used to measure many molecular targets ...

During pregnancy, the fetus is surrounded by amniotic fluid, a substance much like water. Amniotic fluid has live fetal cells and other things, such as alpha-fetoprotein (AFP). They provide important ...

Non-invasive prenatal testing (NIPT) has recently expanded to include sex chromosomal aneuploidies (SCAs) and copy number variations (CNVs), as well as the commonly screened trisomies (T21, T18, and ...

According to latest report, the global genetic testing market size was valued at USD 11.90 billion in 2024 and is expected to reach around USD 91.30 billion by 2034, growing at a CAGR of 22.6% from ...

CARLSBAD, Calif.--(BUSINESS WIRE)--Thermo Fisher Scientific Inc., the world leader in serving science, announced today that the Applied Biosystems™ CytoScan™ Dx Assay and Applied Biosystems™ ...

Identifai is revolutionizing pregnancy safety and prenatal testing by offering the first solution for non-invasive whole-genome sequencing of the fetus, using a blood test from the mother during the ...

1 Reproductive Medicine Research Center, The Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, China. 2 Biomedical Innovation Center, The Sixth Affiliated Hospital, Sun Yat-sen University, ...

Chromosomal microarray analysis (CMA) provides an opportunity to understand genetic causes of congenital heart disease (CHD). The methods for describing cardiac phenotypes in patients with CMA ...