WHOLE EXOME SEQUENCING

DIPLOIDE offers a cost-effective one-step solution by sequencing the entire genomic coding region of an individual.

Facing the diagnostic challenge with Whole Exome Sequencing

For certain patients, the combination of symptoms does not allow the doctor to identify a possible diagnosis. In such cases, the ordering of genetic tests becomes complex and a gradual diagnostic strategy often substantially increases costs. In addition, a late diagnosis can have a significant impact on the patient's quality of life.

 

Most of the disease-causing mutations that have been identified so far (about 85%) are found within the exons. While most genetic tests focus on a single gene or a subset of predetermined genes, the whole exome sequencing test examines thousands of genes simultaneously.

 

The complete sequencing service of the DIPLOIDE exome offers a fast and cost-effective solution in a single step that involves the sequencing of all exons in the entire genome.

High quality information is an essential key to building a trust partnership. Our philosophy is more than just producing technical data. The extensive interpretation of the clinical data delivered with our comprehensive medical reports includes differential diagnostic approaches, as well as a detailed interpretation of the key findings.

 

What is our reporting?

 

  • Evaluation of clinical information.

  • Detailed description of the method.

  • Clear results of the variants identified following the guidelines of international best practices (Council of Societies of Medical Specialties, American College of Medical Genetics).

  • Comprehensive medical interpretation with differential diagnosis approaches, if applicable.

  • References to publications that support medical and scientific results.

  • Recommendations for follow-up analysis of specific diseases.

  • Report of gene coverage.

For several patients, the combination of symptoms does not allow to suspect specific genetic causes with a high certainty. Therefore, it is likely that medical responses are obtained only by sequencing the entire coding region, ie, the complete exome.

 

We particularly recommend the sequencing of the complete exome for patients with:

 

Heterogeneous phenotypes:

  • Intellectual disability / developmental delay

  • Cardiomyopathy

  • Epilepsy

  • Muscular dystrophy

  • Ataxia

  • Neuropathy

  • Deafness

  • Retinitis pigmentosa

  • Bone and connective tissue disorders.

  • Undiagnosed metabolic disorder

  • Short stature

  • Complex dysmorphic features.

  • Immunodeficiency

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