Genetic testing for

Paediatrics

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Paediatrics

It is estimated that at least 50% of infant deaths and 25% of children admitted to hospital are due to genetic illnesses amongst babies and children. 

Genetic study is the most efficient way of obtaining a differential diagnosis among paediatric illnesses, essential in selecting the most adequate treatment for each patient. What’s more, genetic diagnosis is a powerful tool in evaluating the risk of relatives of the patient suffering from the same illness.

Risk evaluation allows us to start preventative treatments, changes in lifestyle, or help with family planning. It also means that health professionals can intensify routine medical checks.

At Reference Laboratory Genetics we have a wide range of specialised paediatric tests available , enabling us to offer the most appropriate test to each patient: from screening to diagnosis, including prevention and prognosis.

Our paediatric NGS panels include genes clinically associated with various paediatric illnesses:

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.

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NGS Diagnostic Catalogue
Paediatrics
NGS Diagnostic Catalogue

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    ZINSSER-COLE-ENGMAN SYNDROME
    ZIMMERMANN-LABAND SYNDROME , NEXT-GENERATION SEQUENCING (NGS) ATP6V1B2 AND KCNH1 GENES
    ZELLWEGER SYNDROME TYPE 5A , SEQUENCING PEX2 GENE
    ZELLWEGER SYNDROME TYPE 8A , SEQUENCING PEX16 GENE
    ZELLWEGER SYNDROME TYPE 6A , SEQUENCING PEX10 GENE
    ZINC DEFICIENCY IN BREAST MILK , SEQUENCING SLC30A2 GENE

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    us is simple and quick

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    We have optimized all our processes to accept a wide range of samples, always adapting to each case.

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