Combining genetic and biochemical testing for fast diagnostics of rare metabolic disorders

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Rare diseases are often complex and present intricate disease pathways.

Inherited metabolic disorders (IMDs) are a group of rare conditions caused by genetic defects that disrupt the cellular metabolism. A growing number of IMDs are treatable if diagnosed early, but can be quickly fatal without prompt identification. With a multiomic approach, we can help you and your patients to accelerate the critical journey from symptoms to diagnosis by avoiding stepwise testing – saving time, resources, and pivotal years amid often rapid IMD progression.

CentoMetabolic is our multiomic panel for IMDs – integrating genetic and biochemical testing, for the fastest and most in-depth diagnosis.

When genetic variants relevant to a patient are then detected via CentoMetabolic, we automatically complement the analysis with biomarkers and/or enzyme testing if applicable, and include the results in the medical report. CentoMetabolic provides you with the most valuable information for diagnosis decisions, prognosis and therapeutic approaches, laying the roadmap to personalized treatment options.

Why Choose CentoMetabolic®?

Multiomic panel integrating genetic and biochemical testing in a single solution

Fast and accurate diagnosis for a wide range of inherited metabolic disorders

Biochemical testing to support variant classification and obtain a definitive diagnosis

Medical reports powered by the world’s largest rare disease-centric Bio/Databank

Key Features and Performance

Multiomic Approach 206 genes and over 20 enzymes and biomarkers associated with more than 180 inherited metabolic disorders
  • ≥ 99.5% targeted regions covered at ≥ 20x
  • For each gene, all clinicaly relevants variants described in HGMD and our rare disease-centric Bio /Databank are covered, including deep intronic and regulatory variants
Improved Interpretation Extra insights supported by our Bio / Databank, which contains curated unique variant data and omics data from a wide range of ethnicities from more than 120 countries, are used to confirm results and validate pathogenicity of the variants found
Deletion/Duplication High resolution NGS-based CNV analysis to detect deletions and duplications is included at no extra cost. Deletion / duplications constitute 5 – 10 % of diseasecausing variants. By including CNV analysis, the potential of providing the most accurate diagnosis increase
Specificity ≥ 99.9 % guaranteed for all reported variants. Variants with low quality and / or unclear zygosity are confirmed by orthogonal methods (Sanger, MLPA, qPCR)*
Material ≥ 1 CentoCard® (filtercard)
TAT 15 business days

*MLPA: Multiplex ligation-dependent probe amplification; qPCR: quantitative polymerase chain reaction.


  • CentoMetabolic® Biochemical testing positive


What Genes and Disorders Are Targeted?

CentoMetabolic targets over 200 genes. The content and design of the panel is based on our continuously enhanced medical expertise and knowledge of rare metabolic disorders. 

The table below shows the distribution of genes and targeted metabolic disorders based on 18 different disease categories:

Congenital disorders of glycosylation and other disorders of protein modification 2
Defects in cholesterol and lipoprotein metabolism 2
Defects in hormone biogenesis or function 7
Disorder of phosphate, calcium and vitamin D metabolism 3
Disorders in the metabolism of purines, pyrimidines, and nucleotides 6
Disorders in the metabolism of trace elements and metals 6
Disorders in the metabolism of vitamins and (non-protein) cofactors 10
Disorders of amino acid and peptide metabolism 33
Disorders of carbohydrate metabolism 35
Disorders of energy metabolism 6
Disorders of fatty acid and ketone body metabolism 3
Disorders of lipid and lipoprotein metabolism 8
Disorders of neurotransmitter metabolism 1
Disorders of porphyrin and heme metabolism 8
Disorders of the metabolism of sterols 16
Lysosomal disorders 48
Peroxisomal disorders 16
Porphyria and bilirubinemia 1

*Due to overlapping phenotypes, particular genes are listed in more than one category as they are associated with more than one disorder

Who Should Consider CentoMetabolic?

Physicians providing diagnoses and treatments for patients matching any of the following criteria:

  • Suspected metabolic disorder
  • Overlapping symptoms and floppy babies
  • Infants with lethargy, abdominal pain, vomiting, jaundice, metabolic acidosis 
  • Abnormal new-born screening results
  • Developmental delay
  • Infants admitted to a neonatal intensive care unit (NICU), especially due to epilepsy of unclear origin and disturbed consciousness
  • Symptoms related to neurological conditions of unknown etiology

Going Beyond Genetics – What Biomarkers and Enzymatic assays are included?

CentoMetabolic multiomic panel includes biomarkers and enzymatic assays for over 20 metabolic disorders. Our multiomic- and big data-based approaches allow us to continuously discover new highly specific biomarkers and develop new enzymatic assays. Any new biomarker and biochemical assay clinicaly relevant for metabolic disorders will be included in this panel, and represents an opportunity to advance our understanding of metabolic disorders well as develop better tailored therapies for patients. 

CENTOGENE offers biomarkers and enzymatic essays for over 25 diseases.

Get in touch with our Partner Support

Our consultation service is available in several languages.

+49 (0) 381 - 80113 416

Mon. – Fri. 7 a.m.– 8 p.m. CEST • Sat. 8 a.m. – 12 p.m. CEST

For our US Partners:

+1 (617) 580-2102

Mon. – Fri. 9 a.m. – 5:30 p.m. EST