Whole Exome Sequencing Test

Whole exome sequencing examines a person's exome, the protein-coding regions of genes that account for about 1% of the whole genome. This test sequences all exons to identify genetic variants and mutations associated with rare diseases and certain cancers.

The whole exome sequencing test can be used when symptoms suggest a genetic disorder, but standard tests have not identified the cause. It is often ordered after other genetic tests like chromosome analysis or targeted panels come back negative. This test casts a wider net by examining all 20,000+ exons, vs. testing a limited number of genes.

Why Whole Exome Sequencing Test Advised?

Whole exome sequencing can pinpoint mutations causing rare inherited conditions like muscular dystrophy, intellectual disability, congenital anomalies, and metabolic disorders. It also detects gene variants increasing cancer risks for conditions like breast cancer or melanoma. The test analyzes small variations in the DNA sequence of exons to uncover single nucleotide variants, insertions or deletions, and copy number variants.

Genetic counselling is recommended when ordering whole exome sequencing to fully understand benefits, limitations and results. While this test greatly expands analysis versus standard panels, it may still miss some mutations. Results require expert analysis and may reveal secondary or incidental findings not directly related to the disorder being assessed.

When is whole exome sequencing used?

Whole exome sequencing is typically ordered after other genetic tests like chromosomes analysis or targeted gene panels come back negative. It expands testing to all 20,000 exons versus a limited number of genes, helping diagnose rare inherited disorders.

What are the benefits of whole exome sequencing?

Whole exome sequencing can pinpoint disease-causing genetic mutations missed by standard testing, leading to a definitive diagnosis. Detecting the genetic basis of disorders guides medical management and enables better healthcare decisions.

• Whole Exome Sequencing Test Reporting: Report in 45-47 Days
• Whole Exome Sequencing Test Sample Type: Whole Blood EDTA Sample

Follow your doctor’s advice on sample collection procedures for this blood test. Turnaround time is usually 45-47 days. Detecting causative mutations provides definitive diagnosis and enables better management. Discuss whole exome sequencing with your doctor to determine if it is right for your situation.

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