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

  1. 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 for 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?

Disorders of Carbohydrate Metabolism3537
Disorders of Cholesterol and Lipoprotein Metabolism3437
Disorders of Amino and Organic Acid Metabolism3239
Disorders of Glycolipid and Glycoprotein Metabolism1918
Transmembrane Protein Defects24
Peroxisomal Disorders1716
Porphyrias and Bilirubinemia1213
Disorders of Hormone Biogenesis or Function88
Disorders of Nucleotide Metabolism77
Disorders of Metal Metabolism and Transport36
Disorders of Phosphate Metabolism33
Lysosomal Storage Disorders2020

*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


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. 

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. CET • Sat. 9 a.m. – 5 p.m. CET

For our US Partners:

+1 (617) 580-2102

Mon. – Fri. 9 a.m. – 5:30 p.m. EST