Metabolic diseases

Hereditary metabolic disorders are genetically determined conditions that affect metabolism. They can lead to an accumulation of toxic substances, energy deficiency, or other metabolic imbalances.

Request Test

  • Sample material: EDTA whole blood
  • Test method: Next-generation sequencing (NGS) (if applicable, Sanger sequencing, MLPA, molecular diagnostics by PCR)
  • Turnaround time: from 2 weeks
  • Required documents:

Detailed information on sample submission can be found here.

DIAGNOSTIC SERVICES

The following table presents our indication-specific testing services in this area:

INDICATIONANALYSIS
Obesity, monogenicGene panel
Alpha-1 antitrypsin (AAT) deficiencySingle-gene analysis (SERPINA1)
CitrullinemiaGene panel
Cystic fibrosisSingle-gene analysis (CFTR)
Fibrinogen deficiencyGene panel
Iron metabolism disordersGene panel
Familial hypercholesterolemiaGene panel
Fatty acid oxidation disorderGene panel
Glycogen storage diseaseGene panel
HemochromatosisMutation analysis (HFE (rs1800562 and rs1799945))
HyperparathyroidismGene panel
HypertriglyceridemiaGene panel
HypothyroidismGene panel
Lysosomal storage diseaseGene panel
Malignant hyperthermiaGene panel
Maturity-onset diabetes of the young (MODY)Gene panel
Fabry diseaseSingle-gene analysis (GLA)
Krabbe diseaseSingle-gene analysis (GALC)
Gilbert syndromeSingle-gene analysis (UGT1A1)
Wilson diseaseSingle-gene analysis (ATP7B)
Phenylketonuria (PKU), hyperphenylalaninemia (HPA)Single-gene analysis (PAH)
PorphyriaGene panel

The genes examined in the respective gene panels are always based on the current versions of the Genomics England PanelApp, the PanelApp Australia, the OMIM Phenotypic Series, as well as the entries in GeneReviews.

If the suspected diagnosis or indication is not listed here, or if it is a complex syndromic clinical picture, it is possible to request exome sequencing based on phenotypic features.

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