Genetic testing for

Metabolopathies

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Metabolopathies

Innate metabolism errors (IME), also known as hereditary metabolic disorders are a large and heterogeneous group of  genetic illnesses caused by alterations in the DNA that interfere with the normal metabolism. The majority of patients affected have a genetic variant that results in an enzymatic deficiency, which leads to a toxic accumulation of compunds or a reduction in the capacity of the synthesis of essential molecules. Clinical consequences of IME can be serious or fatal, being a common cause of mortality and morbidity, especially in peadiatrics.

Early diagnosis and classification of hereditary metabolic disorders are essential for the treatment and management of patients. Unfortunately it’s heterogeneous nature, high number of existing subtypes and overlapping phenotypes can cause a differential diagnosis.  

Over the last 25 years our team has worked to develop a wide portfolio of biochemical and genetic tests, in order to diagnose, detect and monitor metabolopathies. We are specialised in the screening, diagnosis and monitoring of IME. We also carry out additional testing to confirm positive case results in neonatal screening.  

Our NGS panels for metabolopathies include genes clinically associated with different metabolic 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
Metabolopathies
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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