Therefore, as a leading institution in the number of recessive carrier screenings, Eurofins GENTIS has researched and developed GEN28 – Screening of 28 Genetic Disease Genes, designed to identify carriers, assess hereditary risks for offspring, and provide personalized genetic counseling—helping families embark on parenthood with maximum peace of mind.
GEN28 Test – screening of 28 recessive genetic disease genes
GEN28 is a screening test for 28 common and severe recessive genetic disease genes, performed using Next Generation Sequencing (NGS) technology. The test detects individuals who carry recessive disease genes. These conditions are often difficult to treat, require long-term care, and have lifelong effects on patients’ health and quality of life. With GEN28, couples can identify genetic risks early and proactively choose safe and healthy reproductive options.
- Detection Scope: 28 recessive genetic disease genes
- Method: GEN28 is conducted using Next Generation Sequencing (NGS). Sequencing data are processed and analyzed using specialized bioinformatics software.
- Sample Type:
- 2–3 ml of whole blood collected in EDTA tubes.
- For patients undergoing GEN28 together with NIPT testing: a single 7–10 ml sample collected in the NIPT tubes currently used at Eurofins GENTIS is sufficient; no additional EDTA tube is required. - Turnaround Time: 8–10 working days
Diseases screened by GEN28
The 28 genes are associated with 25 inherited syndromes and disorders, including:
- Alpha thalassemia
- Beta thalassemia
- Pendred syndrome / DFNB4 non-syndromic hearing loss
- G6PD deficiency
- Citrin deficiency
- Pompe disease
- Wilson disease
- Phenylketonuria
- Classic galactosemia (Type I)
- Galactosemia Type II deficiency
- Ornithine Transcarbamylase deficiency
- Smith-Lemli-Opitz syndrome
- Tay-Sachs disease
- Fabry disease
- 5-alpha-reductase deficiency
- Cystic fibrosis
- X-linked adrenoleukodystrophy
- Metachromatic leukodystrophy
- Glutaric acidemia type II
- Spinal muscular atrophy with respiratory distress type 1
- Niemann-Pick disease
- Primary carnitine deficiency
- Autosomal recessive polycystic kidney disease
- Hemophilia A
- Hemophilia B
Benefits of GEN28 carrier screening
The GEN28 test offers significant benefits for families. If no disease-carrying gene is detected, couples can confidently plan for pregnancy with minimal concern about genetic risks. If only one partner is a carrier, detailed genetic counseling will be provided, along with an appropriate monitoring plan to ensure a safe pregnancy. When both partners carry the same disease gene, GEN28 enables couples to proactively choose safe reproductive options and effectively prevent disease transmission to their children. For families with a history of genetic disorders, the test helps identify disease-causing genes and provides genetic counseling to minimize hereditary risks for future generations.
With GEN28 by Eurofins GENTIS, healthcare planning becomes more proactive and reassuring. The test enables early detection of recessive genetic carriers, assesses the risk of disease transmission to offspring, and supports couples in making safe and informed reproductive decisions. In addition, GEN28 is accompanied by personalized genetic counseling services, delivering accurate information and practical guidance—helping families fully understand their genetic health and prepare for a healthier future for their children.
