Metabolism and diet
About this category
Metabolism is the set of processes in our body that are responsible for producing and using energy. It also enables the removal of metabolic products from the body.
The metabolic processes are, for example, the breakdown of carbohydrates, fats and proteins, heme synthesis or the urea cycle. The syndromes associated with metabolic disorders concern damage to the functions of genes responsible for the proper functioning of metabolic pathways. Thus, preventing the process from running properly. The most common genetic metabolic disorders occur when the patient inherits one damaged copy of the gene from each parent.
All genetic tests are performed using the next-generation sequencing method, using Illumina sequencers. Our tests are subject to internal and external control. The laboratory is subject to continuous external quality control.
Panels in this category
37 panels-
Aicardi-Goutières syndrome
7 genesADAR; IFIH1; RNASEH2A; RNASEH2B; RNASEH2C; SAMHD1; TREX1
615 EURDetails -
Citrullinemia
2 genesASS1; SLC25A13
530 EURDetails -
Coenzyme q10 deficiency
16 genesADCK3; ADCK4; ANO10; APTX; COQ2; COQ4; COQ5; COQ6; COQ7; COQ9; ETFA; ETFB; ETFDH; PDSS1; PDSS2; SLC25A26
615 EURDetails -
Creatine metabolism disorders
4 genesCKMT2; GAMT; GATM; SLC6A8
530 EURDetails -
Cystinuria
3 genesPREPL; SLC3A1; SLC7A9
530 EURDetails -
Familial hypercholesterolemia
14 genesABCG5; ABCG8; APOA2; APOB; APOE; CYP27A1; EPHX2; GHR; LDLR; LDLRAP1; LIPA; LPL; PCSK9; PPP1R17
615 EURDetails -
Fatty acid oxydation disorders
31 genesABHD5; ACAA1; ACAD8; ACAD9; ACADL; ACADM; ACADS; ACADSB; ACADVL; ALDH3A2; ALDH5A1; CPT1A; CPT2; CYP4V2; ECHS1; ETFA; ETFB; ETFDH; GLUD1; HADH; HADHA; HADHB; HMGCL; HMGCS2; HSD17B10; LPIN1; MLYCD; PPARG; SLC22A5; SLC25A20; TAZ
615 EURDetails -
Galactosemia
5 genesGALE; GALK1; GALM; GALT; SLC5A1
530 EURDetails -
Gangliosidosis
4 genesGLB1; GM2A; HEXA; HEXB
530 EURDetails -
Glycogenoses - large panel
29 genesAGL; ALDOA; ENO3; EPM2A; FBP1; G6PC; GAA; GBE1; GYG1; GYS1; GYS2; LAMP2; LDHA; NHLRC1; PFKM; PGAM2; PGK1; PGM1; PHKA1; PHKA2; PHKB; PHKG2; PRKAG2; PRKAG3; PYGL; PYGM; RBCK1; SLC2A2; SLC37A4
615 EURDetails -
Glycogenoses - small panel
5 genesAGL; G6PC; GBE1; PYGM; SLC37A4
530 EURDetails -
Glycosylation disorders
73 genesALG1; ALG11; ALG12; ALG13; ALG2; ALG3; ALG6; ALG8; ALG9; ATP6AP1; ATP6AP2; ATP6V0A2; B3GALNT2; B3GALTL; B3GNT1; B4GALT1; CCDC115; COG1; COG2; COG4; COG5; COG6; COG7; COG8; DAG1; DDOST; DHDDS; DOLK; DPAGT1; DPM1; DPM2; DPM3; FKRP; FKTN; FUT8; GALNT12; GALNT2; GAMT; GMPPA; GNE; ISPD; LARGE; MAGT1; MAN1B1; MGAT2; MOGS; MPDU1; MPI; NGLY1; NUS1; PGM1; PGM3; PMM2; POMGNT1; POMGNT2; POMK; POMT1; POMT2; RFT1; RPN2; SEC23B; SLC35A1; SLC35A2; SLC35C1; SLC39A8; SRD5A3; SSR4; STT3A; STT3B; TMEM165; TMEM199; TMEM5; TUSC3
615 EURDetails -
Hemochromatosis
6 genesFTH1; HAMP; HFE; HFE2; SLC40A1; TFR2
615 EURDetails -
Homocystinuria
10 genesABCD4; CBS; HCFC1; LMBRD1; MMACHC; MMADHC; MTHFR; MTR; MTRR; PRDX1
615 EURDetails -
Hyperinsulinemia and ketone metabolism disorders
52 genesABCC8; ACAT1; ACSF3; AGL; AKR1C2; AKR1C4; ALDOA; ALDOB; ENO3; EPM2A; FBP1; G6PC; GAA; GBE1; GCK; GLUD1; GYG1; GYS1; GYS2; HADH; HMGCL; HMGCS2; HNF1A; HNF4A; INSR; KCNJ11; LAMP2; LDHA; MPV17; NHLRC1; OXCT1; PC; PCK1; PCK2; PDX1; PFKM; PGAM2; PGK1; PGM1; PHKA1; PHKA2; PHKB; PHKG2; PRKAG2; PRKAG3; PYGL; PYGM; RBCK1; SLC16A1; SLC2A2; SLC37A4; UCP2
615 EURDetails -
Hyperphenylalaninemia
6 genesDNAJC12; GCH1; PAH; PCBD1; PTS; QDPR
615 EURDetails -
Hypomagnesemia
25 genesATP1A1; BSND; CASR; CLCNKB; CLDN16; CLDN19; CNNM1; CNNM2; CNNM4; EGF; FAM111A; FXYD2; HNF1B; KCNA1; KCNJ10; MAGT1; MMGT1; NIPA2; PCBD1; SARS2; SLC12A3; SLC41A2; SLC41A3; TRPM6; TRPM7
615 EURDetails -
Lipodystrophies
17 genesADRA2A; AGPAT2; AKT2; BSCL2; CAV1; CIDEC; LIPE; LMNA; LMNB2; PIK3R1; PLIN1; POLD1; PPARG; PSMB8; PTRF; TBC1D4; ZMPSTE24
615 EURDetails -
Lysosomal storage disorders - large panel
112 genesABCC8; ACER1; ACER2; ACER3; ACY1; ADSL; AGA; ALDH5A1; ALDH7A1; AMT; ANTXR2; AP5Z1; ARG1; ARSA; ARSB; ASAH1; ASPA; ATP13A2; BTD; CLN3; CLN5; CLN6; CLN8; COL11A2; COL2A1; CTNS; CTSA; CTSC; CTSD; CTSK; DHCR7; DPYD; DYM; ECM1; ETFA; ETFB; ETFDH; FH; FOLR1; FUCA1; GAA; GALC; GALNS; GAMT; GBA; GCDH; GLA; GLB1; GLDC; GM2A; GNE; GNPTAB; GNPTG; GNS; GPC3; GUSB; HEXA; HEXB; HGSNAT; HPD; HRAS; HYAL1; IDS; IDUA; L2HGDH; LAMA2; LAMP2; LDB3; LIPA; MAN1B1; MAN2B1; MANBA; MCOLN1; MFSD8; MOCS1; MOCS2; MYOT; NAGA; NAGLU; NEU1; NPC1; NPC2; PEX1; PEX10; PEX12; PEX13; PEX16; PEX26; PEX3; PEX5; PEX6; PGK1; PHYH; PIGV; PPT1; PRODH; PSAP; QDPR; RAI1; RPS6KA3; SGSH; SLC17A5; SLC25A15; SLC44A4; SLC46A1; SMPD1; ST3GAL5; SUMF1; SUOX; TCF4; TPP1; VPS33A
615 EURDetails -
Lysosomal storage disorders - small panel
13 genesARSA; FUCA1; GALC; GBA; GLB1; GNPTAB; GUSB; HEXA; HEXB; MAN2B1; MANBA; NAGA; SMPD1
615 EURDetails -
Malignant hyperthermia
6 genesCACNA1S; CACNA2D1; CRLF1; LIFR; RYR1; STAC3
615 EURDetails -
Maple syrup disease
5 genesBCKDHA; BCKDHB; DBT; DLD; PPM1K
530 EURDetails -
Marfan and Beals Syndromes
5 genesAP2S1; CASR; CYP24A1; GNA11; SLC34A1
530 EURDetails -
MCCC gene disorders
2 genesMCCC1; MCCC2
530 EURDetails -
Metabolic myopathies and rhabdomyolysis
59 genesACAD9; ACADL; ACADM; ACADVL; ADCK3; AGL; AHCY; ALDOA; AMPD1; ANO5; ATP2A1; C10orf2; CAV3; COQ2; CPT1B; CPT2; CTDP1; DYSF; ENO3; ETFA; ETFB; ETFDH; FKRP; FKTN; FLAD1; GAA; GBE1; GYG1; GYS1; HADHA; HADHB; ISCU; LDHA; LDHB; LPIN1; MYH3; OPA1; OPA3; PFKM; PGAM2; PGK1; PGM1; PHKA1; PHKG1; PNPLA2; POLG; POLG2; PYGM; RBCK1; RRM2B; RYR1; SCN4A; SLC22A5; SLC25A20; SUCLA2; SUCLG1; TANGO2; TK2; TYMP
615 EURDetails -
Methylmalonic aciduria
13 genesABCD4; ACSF3; CD320; HCFC1; LMBRD1; MCEE; MMAA; MMAB; MMACHC; MMADHC; MTR; MUT; PRDX1
615 EURDetails -
Monogenic diabetes - selected genes
7 genesBLK; GCK; HNF1A; HNF1B; HNF4A; KLF11; NEUROD1
560 EURDetails -
Monogenic obesity
65 genesADCY3; ADRB2; ADRB3; AFF4; AGRP; ALMS1; ARL6; BBS1; BBS10; BBS12; BBS2; BBS4; BBS5; BBS7; BBS9; BDNF; CARTPT; CCDC28B; CELA2A; CEP19; CEP290; CPE; CUL4B; DYRK1B; ENPP1; FTO; GHR; GHRL; GNAS; GNB3; HDAC4; HDAC8; INPP5E; KIDINS220; KSR2; LAS1L; LEP; LEPR; LZTFL1; MAGEL2; MC3R; MC4R; MKKS; MKS1; MRAP2; NR0B2; NTRK2; PCSK1; PHF6; PHIP; POMC; PPARG; PYY; SDC3; SDCCAG8; SH2B1; SIM1; SLC6A14; TRIM32; TTC8; TUB; UCP2; UCP3; VPS13B; WDPCP
615 EURDetails -
Mucopolysaccharidosis
14 genesARSB; GALNS; GLB1; GNPTAB; GNPTG; GNS; GUSB; HGSNAT; HYAL1; IDS; IDUA; NAGLU; SGSH; VPS33A
615 EURDetails -
Non-ketotic glycinemia
9 genesAMT; BOLA3; GCSH; GLDC; GLRX5; LIAS; LIPT1; NFU1; SLC6A9
615 EURDetails -
Obesity risk
8 genesADRB2; ADRB3; APOA2; FTO; MC4R; MRAP2; NMB; PPARG
615 EURDetails -
Organic acidurias and cobalamine deficiency
58 genesABCD4; ACADSB; ACAT1; ACSF3; ADK; AHCY; AMN; BCKDHA; BCKDHB; BCS1L; CBS; CD320; CLPB; CTH; CUBN; D2HGDH; DBT; DLD; ETFA; ETFB; ETFDH; FLAD1; GCDH; GIF; GNMT; HCFC1; HIBCH; HMGCL; IDH2; IVD; L2HGDH; LMBRD1; MCCC1; MCCC2; MCEE; MLYCD; MMAA; MMAB; MMACHC; MMADHC; MTHFD1; MTHFR; MTR; MTRR; MUT; PCCA; PCCB; PEPD; PPM1K; PRDX1; SERAC1; SLC25A1; SUCLA2; SUCLG1; SUGCT; TCN1; TCN2; UMPS
615 EURDetails -
Periodic paralysis
5 genesCACNA1S; CLCN1; KCNE3; KCNJ2; SCN4A
530 EURDetails -
Peroxysome function disorders
28 genesABCD1; ABCD3; ACOX1; AGPS; AGXT; AMACR; DNM1L; DYM; EBP; GNPAT; HSD17B4; PEX1; PEX10; PEX11B; PEX12; PEX13; PEX14; PEX16; PEX19; PEX2; PEX26; PEX3; PEX5; PEX6; PEX7; PHYH; SUGCT; TRIM37
615 EURDetails -
Porphyria
10 genesALAD; ALAS2; CLPX; CPOX; FECH; HFE; HMBS; PPOX; UROD; UROS
615 EURDetails -
Tyrosinemia
4 genesFAH; GSTZ1; HPD; TAT
530 EURDetails -
Urea cycle disorder
49 genesACADM; ACADS; ACADVL; ARG1; ASL; ASS1; BCKDHA; BCKDHB; CA5A; CPS1; CPT1A; CPT2; DBT; DLD; ETFA; ETFB; ETFDH; GLUD1; GLUL; HADHA; HADHB; HCFC1; HLCS; HMGCL; HMGCS2; IVD; MCCC1; MCCC2; MMAA; MMAB; MMACHC; MMADHC; MUT; NAGS; NBAS; OAT; OTC; PC; PCCA; PCCB; SLC22A5; SLC25A13; SLC25A15; SLC25A20; SLC7A7; SUCLA2; SUCLG1; TMEM70; UMPS
615 EURDetails
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