Carrier Screening by Clinical Exome Sequencing (CES) - Couple

Carrier Screening by Clinical Exome Sequencing (CES) – Couple

Overview

Carrier Screening by Clinical Exome Sequencing (CES) for couples is an advanced genetic test that evaluates both partners for inherited gene variants associated with hundreds to thousands of autosomal recessive and X-linked genetic disorders. It helps identify the risk of passing serious genetic conditions to future children, enabling informed family planning and reproductive decisions.

Why is this test recommended?

• Identifies whether both partners carry mutations in the same disease-causing gene.
• Assesses the risk of inherited genetic disorders in future pregnancies.
• Supports preconception and prenatal genetic counseling.
• Assists couples considering IVF with Preimplantation Genetic Testing (PGT).
• Especially beneficial for couples with:
  • Family history of genetic disorders
  • Consanguineous (related) marriages
  • Previous child with a genetic condition
  • Recurrent pregnancy loss
  • Unexplained infertility

Conditions Screened

Clinical Exome Sequencing can detect carrier status for a broad range of inherited disorders, including:

• Thalassemia and Hemoglobinopathies
• Cystic Fibrosis
• Spinal Muscular Atrophy (SMA)
• Duchenne Muscular Dystrophy (carrier status)
• Metabolic Disorders
• Neurological Disorders
• Muscular Disorders
• Rare Genetic Syndromes
• Many other clinically significant inherited conditions

Sample Required

• Peripheral Blood (EDTA) from both partners

Preparation

• No fasting or special preparation required.
• Genetic counseling is recommended before and after testing.

Benefits

• Comprehensive screening using next-generation sequencing technology.
• Detects carriers for a large number of inherited diseases.
• Enables informed reproductive planning.
• Helps reduce the risk of passing genetic disorders to offspring.
• Supports personalized genetic counseling and clinical decision-making.

Who should consider this test?

• Couples planning pregnancy
• Couples undergoing fertility treatment or IVF
• Individuals with a family history of inherited disorders
• Consanguineous couples
• Couples seeking comprehensive preconception screening

Turnaround Time

Typically 4–8 weeks (may vary depending on laboratory workflow).

Note: A positive carrier result does not indicate disease in the individual but signifies the potential to pass the altered gene to future children. Results should always be interpreted by a qualified geneticist or genetic counselor.