Whole Genome Sequencing (WGS) for Undiagnosed Disorders: A Step Toward Precision Medicine

WGS Followed by Targeted Molecular Analysis (TMA)

Once WGS is conducted and potential genetic variants are identified, Targeted Molecular Analysis (TMA) is often recommended as a follow-up step. TMA focuses on specific genetic variations that may contribute to a disorder, providing a deeper understanding of the condition. This step is critical in confirming the findings from WGS and can guide the development of a treatment plan or provide genetic counseling to affected families.

Benefits of Whole Genome Sequencing in Undiagnosed Disorders

Comprehensive Diagnosis: WGS decodes the entire genome, ensuring that even rare genetic conditions are identified, which might be missed by other genetic tests.
Precision Medicine: By identifying the exact genetic mutations, WGS helps doctors tailor a personalized treatment or intervention plan for the patient.
Faster Diagnosis: In cases where traditional diagnostic methods are insufficient, WGS can expedite the diagnosis, potentially saving valuable time in treatment.
Family Planning & Genetic Counseling: For families with a history of undiagnosed disorders, WGS provides insights that may help guide decisions on future pregnancies or provide genetic counseling for at-risk family members.

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Whole genome sequencing

Whole Genome Sequencing (WGS) for Undiagnosed Disorders: A Step Toward Precision Medicine

Interested in learning more or getting tested?