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®?
*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?
|TYPES OF METABOLIC DISORDERS COVERED||NUMBER OF GENES*|
|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|
|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
Which genes are included?
CentoMetabolic® tests for the following 206 genes:
ABCA1, ABCB4, ABCC2, ABCD1, ABCD4, ABCG5, ABCG8, ACAT1, ADA, AGA, AGL, AGPS, AGXT, ALAD, ALAS2, ALDH4A1, ALDOA, ALDOB, ALG3, ALPL, ANTXR2, APOA2, APOA5, APOB, APOC2, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DHCR7, DIABLO, DLX4, DNAJC5, DPYD, ENO3, ENPP1, EPHX2, ETHE1, FAH, FBP1, FECH, FGF23, FUCA1, G6PC, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA, GBE1, GHR, GK, GLA, GLB1, GM2A, GNPAT, GNPTAB, GNPTG, GNS, GUSB, GYG1, GYS1, GYS2, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HJV, HLCS, HMBS, HPRT1, HSD3B2, HYAL1, IDS, IDUA, ITIH4, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LIPI, LMBRD1, LPA, LPL, MAN2B1, MANBA, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, OTC, PAH, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, POR, PPOX, PPP1R17, PPT1, PRKAG2, PSAP, PYGL, PYGM, RBCK1, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A36, SLC2A1, SLC2A2, SLC2A3, SLC37A4, SLC3A1, SLC3A2, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SUMF1, TAT, TFR2, TPP1, UGT1A1, UMPS, UROD, UROS
|Conditions||>180 metabolic disorders|
Biomarker and enzyme analysis (if applicable)
CNV analysis included
|Material||≥ 1 filtercard|
|TAT||15 business days|
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.