RefLab Exome®

Find the answers you are looking for

Transforming complex sequencing data into medical decisions

Certain patients present a combination of symptoms characteristic of syndromes with several associated genes. In these cases, the study of a single gene is usually an inefficient strategy, resulting in staggered, lengthy and costly diagnostic processes that can end up delaying diagnosis and negatively affecting their quality of life. 85% of the known pathogenic variants are found in the coding regions of the genes, the exons.

Focusing on these regions where the disease causing genetic alterations are most likely to be found, RefLab Exome® sequences the whole exome (WES) and interprets the sequencing data from a clinical point of view, offering comprehensive and conclusive medical reports.

Test code: 25954, 25953

Sample requirements:

    • 5mL whole blood EDTA
    • 1 RefLabCard®
    • Purified DNA (≥ 30ng/uL in ≥ 100uL)

Informed consent must be sent with the sample

We offer the most advanced Exome Sequencing services and bioinformatic tools in order to sequence thousands of genes simultaneously and to perform the clinical interpretation of the sequencing data in a reliable, fast and cost-effective way.

When is WES indicated?

  • Genetically heterogeneous disorders (intellectual disability, metabolopathies, ataxias, neuropathies...)
  • There is no specific genetic test to diagnose the suspected genetic disease
  • There are inconclusive prior genetic tests

Why RefLab Exome®?

  • Low turnaround times (< 30 working days).
  • Maximum clinical utility and diagnostic performance.
  • Fewer VOUS thanks to RefLab Database®.
  • Comprehensive and conclusive medical reports.
  • Pre and post-analysis support provided by our experts in clinical genetics.
  • Fast and reliable results thanks to our bioinformatic tools and RefLab Database®.

RefLab Exome® covers all medical specialties

We adapt to your patients’ needs

We offer the possibility of analysing the sample of the index patient (solo) or the samples of the parents together with the sample of the index patient (trio), as well as the extension of the analysis to other relatives.

How to order?

Check our sample requirements

Genetic Counseling Support

Ordering a test or Service from
us is simple and quick

We accept a wide range
of samples

Get pre and postanalysis
genetic counseling

How to order?

Ordering a test or Service from
us is simple and quick

Check our sample requirements

We accept a wide range
of samples

Genetic Counseling Support

Get pre and postanalysis
genetic counseling

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