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. 

A genetic test alone may not be able to provide the information needed for a final diagnosis. Therefore, we have pioneered a combination of different omics with an optimized testing strategy – enabling a quick diagnosis for urgent treatments.

CentoMetabolic is one of the world’s first multiomic analyses for Inherited Metabolic Disorders (IMD) – integrating genetic, followed by 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. In addition, CentoMetabolic includes an evaluation of copy number variants (CNV) at no extra cost – making the highest quality diagnostic analyses more accessible.

Why Choose CentoMetabolic®?

One-test solution for rare metabolic diseases

FAST answers when patients need it the most


Biochemical testing!* Complementary information and confirmation of disease

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

*if applicable

Key features

Number genes

206 genes
Conditions >180 metabolic disorders
  • All coding regions and +/-10bp exon/intron boundaries
  • All relevant deep intronic mutations described in CentoMD® and HGMD® included
  • ≥ 99.5% of targeted regions covered at ≥ 20x,
  • Specificity > 99.99% for all reported variants
  • Low quality single nucleotide variants (SNVs) and all relevant deletion/insertion variants are confirmed by sanger sequencing
Complementary testing
  • Biochemical testing (if applicable)
  • CNV analysis included
Material ≥ 1 CentoCard®
TAT 15 business days


  • 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 treatment for patients matching any of the following criteria:

  • Suspected metabolic disorder
  • Overlapping symptoms and floppy babies
  • Infants with lethargy or abdominal pain or vomiting or jaundice or metabolic acidosis 
  • Abnormal new-born screening results
  • Developmental delay
  • Admission 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

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