RefLab Clinical Exome®

We analyse all clinically relevant genes with known clinical phenotypes

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RefLab Clinical Exome®

The largest NGS panel

RefLab Clinical Exome® is an optimized clinical exome that analyses >5.500 clinically relevant genes with known clinical phenotypes. Our clinical exome allows health professionals to focus on clinically relevant genes and avoids the inconclusive results of sequencing regions unrelated to human disease, ensuring the highest clinical utility with the shortest turnaround times. We use optimized probes to offer a highly uniform sequencing with an unparalleled coverage for all those genes considered as clinically relevant by OMIM, HGMD, ClinVar, GeneReviews and RefLab Database®, among other international databases.

Test code: 25955, 25965

Sample requirements:

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

Informed consent must be sent with the sample

Together with our improved protocols, which require fewer amplification cycles significantly reducing artifact generation, RefLab Clinical Exome® provides an improved sensitivity and specificity for the detection of variants in clinically relevant regions, even allowing the detection of low-frequency variants with high precision.

Designed to offer improved coverage on:

  • Medically relevant regions, even outside the exome, such as regulatory regions and other disease associated regions.
  • GC rich regions, thanks to the use of optimised probes.
  • First exon, which provides beer coverage throughout the gene and less dependence on Sanger sequencing.

Why RefLab Clínical Exome®

  • Maximum clinical utility and diagnostic performance.
  • Improved sensitivity and specificity for variant detection in target regions with respect to the complete exome.
  • Improved coverage and accuracy in clinically relevant regions.
  • Fewer VOUS thanks to RefLab Database®.
  • Comprehensive and conclusive medical reports.
  • Pre and post-test genetic counselling.
  • Fast and reliable results thanks to our bioinformatics tools and RefLab Database®.

When is RefLab Clinical Exome® indicated?

  • Complex phenotypes with multiple associated genes.
  • Genetically heterogeneous disorders.
  • There is no specific genetic test to diagnose the suspected genetic disease.
  • There are inconclusive prior genetic tests.

RefLab Clinical 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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