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

  1. Home
  2. Diagnostics
  3. Metabolic Testing


A panel that integrates genetic and biochemical testing for a fast diagnosis of a wide range of rare metabolic diseases.

Most patients suffering from rare metabolic diseases start with very severe phenotypes and with rapid progression of the disease that often leads to irreversible damage of their organs. A quick diagnosis is necessary for urgent treatment.

Why Choose CentoMetabolic®?

Fast and precise diagnostic test

Comprehensive coverage

Complementary biochemical testing by proprietary biomarkers and enzyme-activity assays*

Medical reports powered by the world´s largest mutation database


*When variants relevant to your patient are detected, we will automatically complement the genetic testing with biomarker and/or enzyme testing (if applicable) and include the results in your medical report.

What genes and disorders are targeted?

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 haem 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

When to use it?

Recommended when patients match any of the following criteria:

  • Suspected metabolic disorder
  • Complex, overlapping symptoms with broad differential diagnosis
  • Metabolic crisis
  • Abnormal newborn screening results
  • Admission to a neonatal intensive care unit
  • Symptoms related to neurological conditions of unknown etiology
  • Overlapping symptoms with varying age of onset and severity

Key features

# 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® incl., ≥ 99.5% of targeted regions covered at ≥ 20x,
  • Specificity > 99.9% for all reported variants
Complementary testing

Biomarker and enzyme analysis (if applicable)

CNV analysis included

Material ≥ 1 filtercard
TAT 15 business days


  • CentoMetabolic® Biochemical testing positive


Biomarker and enzyme testing

AADC = Aromatic L-amino acid decarboxylase

NCLs = Neuronal Ceroid Lipofuscinosis

MPS = Mucopolysaccharidosis

* Patients who qualify for Arylsulfatase A enzyme (MLD) testing will be contacted for submission of additional sample. Arylsulfatase A enzyme (MLD) testing requires ≥5ml EDTA blood (testing is performed in leukocytes). Samples have to arrive within 72hrs of collection. 

#A method using Lyso-Gb1 is covered by US Patent No. 10,859,580, other pending US applications, and pending applications and patents in other jurisdictions.

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