GEN28 – 28-GENE RECESSIVE CARRIER SCREENING PANEL

GEN28 is a carrier screening test designed to identify pathogenic variants in 28 clinically significant genes associated with recessive genetic disorders. Utilizing advanced Next-Generation Sequencing (NGS) technology, the assay enables:

• Identification of carrier status for inherited genetic disorders
• Assessment of reproductive genetic risk to offspring
• Support for personalized genetic counseling and reproductive planning
• Why Choose GEN28 at Eurofins GENTIS?
• One of the leading providers of carrier screening services
• Comprehensive screening panel covering 28 clinically relevant genes
• Advanced NGS-based technology
• Highly accurate results with lifelong clinical relevance
• Personalized post-test genetic counseling
• Testing Methodology

GEN28 is performed using Next-Generation Sequencing (NGS) technology. Sequencing data are processed and interpreted using dedicated bioinformatics pipelines for the detection of pathogenic and likely pathogenic variants.

Many healthy individuals unknowingly carry pathogenic variants associated with autosomal recessive genetic disorders.

When both partners carry pathogenic variants in the same autosomal recessive gene, each pregnancy carries:

• 25% risk of an affected child
• 50% risk of a carrier child
• 25% chance of an unaffected, non-carrier child

Many of these disorders are severe, lifelong conditions associated with significant morbidity, complex medical management, and substantial healthcare costs.

GEN28 enables early identification of reproductive genetic risks, allowing couples to make informed reproductive decisions and reduce the risk of transmitting inherited disorders to future generations.

The panel evaluates 28 genes associated with 25 inherited disorders, including:

Neuromuscular and Neurodegenerative Disorders

• Tay–Sachs disease
• X-linked adrenoleukodystrophy
• Metachromatic leukodystrophy
• SMARD1

Inherited Metabolic Disorders

• PKU
• Galactosemia type I
• Galactokinase deficiency
• Citrin deficiency
• OTCD
• Glutaric acidemia type II
• Primary carnitine deficiency
• Smith–Lemli–Opitz syndrome
• Wilson disease

Lysosomal Storage Disorders

• Pompe disease
• Fabry disease
• Tay–Sachs disease
• Metachromatic leukodystrophy

Hematologic Disorders

• Alpha-thalassemia
• Beta-thalassemia
• Hemophilia A
• Hemophilia B
• G6PD deficiency

• Couples planning marriage
• Couples planning pregnancy
• Individuals or families with a history of inherited disorders
• Pregnant women who have not previously undergone carrier screening

Specimen

2–3 mL peripheral whole blood collected in an EDTA tube

Special Note

For patients undergoing both GEN28 and NIPT testing, the blood sample collected for NIPT (7–10 mL) may be used directly, eliminating the need for an additional EDTA blood specimen.

Workflow

• Sample collection
• NGS-based sequencing
• Bioinformatics analysis and variant interpretation
• Result reporting and genetic counseling

Turnaround Time: 8–10 working days

• No Pathogenic Variant Detected
• Provides reassurance and significantly reduces concern regarding screened hereditary disorders.
• One Partner Identified as a Carrier
• Facilitates individualized genetic counseling and reproductive risk assessment.
• Both Partners Identified as Carriers of the Same Disorder
• Enables informed reproductive decision-making, including consideration of assisted reproductive technologies and preimplantation genetic testing.
• Positive Family History of Genetic Disorders
• Supports risk assessment and genetic counseling for future family planning.