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
2194 PLNDetails -
Citrullinemia
2 genesASS1; SLC25A13
1894 PLNDetails -
Coenzyme q10 deficiency
16 genesADCK3; ADCK4; ANO10; APTX; COQ2; COQ4; COQ5; COQ6; COQ7; COQ9; ETFA; ETFB; ETFDH; PDSS1; PDSS2; SLC25A26
2194 PLNDetails -
Creatine metabolism disorders
4 genesCKMT2; GAMT; GATM; SLC6A8
1894 PLNDetails -
Cukrzyca monogenowa - analiza wybranych genów
7 genesBLK; GCK; HNF1A; HNF1B; HNF4A; KLF11; NEUROD1
1994 PLNDetails -
Cystinuria
3 genesPREPL; SLC3A1; SLC7A9
1894 PLNDetails -
Familial hypercholesterolemia
12 genesAPOA2; APOB; APOE; CYP27A1; EPHX2; GHR; LDLR; LDLRAP1; LIPA; LPL; PCSK9; PPP1R17
2194 PLNDetails -
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
2194 PLNDetails -
Galactosemia
5 genesGALE; GALK1; GALM; GALT; SLC5A1
1894 PLNDetails -
Gangliosidosis
4 genesGLB1; GM2A; HEXA; HEXB
1894 PLNDetails -
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
2194 PLNDetails -
Glycogenoses - small panel
5 genesAGL; G6PC; GBE1; PYGM; SLC37A4
1894 PLNDetails -
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
2194 PLNDetails -
Hemochromatosis
6 genesFTH1; HAMP; HFE; HFE2; SLC40A1; TFR2
2194 PLNDetails -
Homocystinuria
10 genesABCD4; CBS; HCFC1; LMBRD1; MMACHC; MMADHC; MTHFR; MTR; MTRR; PRDX1
2194 PLNDetails -
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
2194 PLNDetails -
Hyperphenylalaninemia
6 genesDNAJC12; GCH1; PAH; PCBD1; PTS; QDPR
2194 PLNDetails -
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
2194 PLNDetails -
Lipodystrophies
17 genesADRA2A; AGPAT2; AKT2; BSCL2; CAV1; CIDEC; LIPE; LMNA; LMNB2; PIK3R1; PLIN1; POLD1; PPARG; PSMB8; PTRF; TBC1D4; ZMPSTE24
2194 PLNDetails -
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
2194 PLNDetails -
Lysosomal storage disorders - small panel
13 genesARSA; FUCA1; GALC; GBA; GLB1; GNPTAB; GUSB; HEXA; HEXB; MAN2B1; MANBA; NAGA; SMPD1
2194 PLNDetails -
Malignant hyperthermia
6 genesCACNA1S; CACNA2D1; CRLF1; LIFR; RYR1; STAC3
2194 PLNDetails -
Maple syrup disease
5 genesBCKDHA; BCKDHB; DBT; DLD; PPM1K
1894 PLNDetails -
Marfan and Beals Syndromes
5 genesAP2S1; CASR; CYP24A1; GNA11; SLC34A1
1894 PLNDetails -
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
2194 PLNDetails -
Methylmalonic aciduria
13 genesABCD4; ACSF3; CD320; HCFC1; LMBRD1; MCEE; MMAA; MMAB; MMACHC; MMADHC; MTR; MUT; PRDX1
2194 PLNDetails -
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
2194 PLNDetails -
Mucopolysaccharidosis
14 genesARSB; GALNS; GLB1; GNPTAB; GNPTG; GNS; GUSB; HGSNAT; HYAL1; IDS; IDUA; NAGLU; SGSH; VPS33A
2194 PLNDetails -
Non-ketotic glycinemia
9 genesAMT; BOLA3; GCSH; GLDC; GLRX5; LIAS; LIPT1; NFU1; SLC6A9
2194 PLNDetails -
Obesity risk
8 genesADRB2; ADRB3; APOA2; FTO; MC4R; MRAP2; NMB; PPARG
2194 PLNDetails -
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
2194 PLNDetails -
Periodic paralysis
5 genesCACNA1S; CLCN1; KCNE3; KCNJ2; SCN4A
1894 PLNDetails -
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
2194 PLNDetails -
Porphyria
10 genesALAD; ALAS2; CLPX; CPOX; FECH; HFE; HMBS; PPOX; UROD; UROS
2194 PLNDetails -
Tyrosinemia
4 genesFAH; GSTZ1; HPD; TAT
1894 PLNDetails -
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
2194 PLNDetails -
Zaburzenia genów MCCC
2 genesMCCC1; MCCC2
1894 PLNDetails
Not sure which test to choose?
Book a consultation with a clinical geneticist, or get in touch — we'll help you choose the right test.