NGS Panels

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Comprehensive diagnostic testing for all medical specialities

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.

At Reference Laboratory Genetics, we have developed > 430 NGS panels, covering all medical specialities. Our aim is to provide healthcare professionals with the necessary tools in order to diagnose their patients accurately, and to help them make.

  • Our NGS panels include genes clinically associated to the studied diseases.
  • Continually updated panels using HPO in order to include the most recent association published between phenotype and genotype.
  • Lower number of VOUS thanks to our database Reflab Database®, and main genetic variants and specific to illness databases.
  • The best turnaround times (< 30 days).
  • Pre and postanalysis support with our experts in clinical genetics.
  • Conclusive, transparent and customizable clinical reports.
  • Maximum diagnostic yield and clinical utility.

Thinking global

Our Global NGS Panels are an excellent option for dealing with cases where syndromes with multiple associated genes are suspected as they evaluate multiple genes simultaneously, increasing the diagnostic yield and reducing costs and response.

RefLab Genome (WGS)

  • 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.

RefLab Exome (WES)

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

RefLab Clinical Exome (CES)

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

RefLab Global
NGS Panels

  • Syndromes with a large number of associated genes are suspected

Sample requirements:
Postnatal: 1 RefLabCard
5 mL EDTA whole blood
>100 μL purified DNA (at > 25 ng/μL)
Prenatal:  15 mL amniotic fluid or chorionic villi
Contact us to learn about other accepted samples

Patient’s informed consent and clinical data (HPOs) must be sent with the sample

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Explore all our NGS panels

Cardiology
Dermatology
Neurology
Endocrinology
Metabolopathies
Nephrology
Ophthalmology
Paediatrics
Oncology
Immunology
Gynaecology
Digestive System
Reproduction
Urology
Pneumology
Rheumatology
Traumatology
Otolaryngology
Pathological anatomy
Pharmacogenetics

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