RefLab Genome®

Whole genome sequencing

The most complete genetic testing solution to diagnose complex and undiagnosed cases

Despite containing most of the known pathogenic variants, the coding regions of the genes (exons) represent only ~1% of the genome. Recent clinical studies show the cause of certain alterations in noncoding regions, demonstrating the importance of analysing such areas. RefLab Genome® sequences the coding and non-coding regions of the genome, detecting in a single genetic test, almost any change in a patient‘s DNA.

Test code: 35031, 35032

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?

  • Complex and heterogeneous disorders with unclear or atypical phenotypes
  • There is no specific genetic test to diagnose the suspected genetic disease
  • There are inconclusive prior genetic tests

Why RefLab Genoma®?

  • 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 Genome® 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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