Analysis of all known genes associated with genetic metabolic diseases incl. mitochondriopathies.

Disorders of Intracellular Cobalamin Metabolism

ABCD4, AMN, CBLIF, CD320, CUBN, HCFC1, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, PRDX1, TCN2, THAP11, ZNF143

Metabolic Myopathies

ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, AGL, ALDOA, AMPD1, CPT2, ENO3, ETFA, ETFB, ETFDH, FLAD1, G6PC, GAA, GBE1, GYG1, GYS1, HADH, HADHA, HADHB, ISCU, LAMP2, LDHA, LPIN1, NPL, PDHA1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PNPLA2, POLG2, PRKAG2, PUS1, PYGM, RBCK1, RRM2B, SLC16A1, SLC22A5, SLC25A20, TAZ, YARS2

Panel for Metabolic Diseases incl. Mitochondriopathies

AARS2, ABCB7, ABCC8, ABCD1, ABCD4, ACAD9, ACBD5, ACO2, ACOX1, AFG3L2, AGA, AGK, AGL, AGPS, AGXT, AIFM1, AKT2, ALAD, ALAS2, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMN, AMT, ANO10, APPL1, APTX, ARG1, ARSA, ARSB, ARSG, ARSL, ASAH1, ASL, ASS1, ATAD3A, ATP13A2, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MK, ATP6AP1, ATP6AP2, ATPAF2, B4GALT1, BCKDHA, BCKDHB, BCS1L, BLK, BOLA3, BTD, C1QBP, C2orf69, CA5A, CARS2, CAT, CBLIF, CCDC115, CD320, CEL, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, COA3, COA5, COA6, COA7, COA8, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX16, COX20, COX4I1, COX5A, COX6A1, COX6A2, COX6B1, COX7B, COX8A, CPOX, CPS1, CTNS, CTSA, CTSD, CTSF, CTSK, CUBN, CYC1, DARS2, DBT, DDOST, DGUOK, DHDDS, DHFR, DLAT, DLD, DNA2, DNAJC19, DNAJC30, DNAJC5, DNM1L, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYM, EARS2, EBP, ECHS1, EDEM3, ELAC2, ENO3, ETFDH, ETHE1, FAR1, FARS2, FASTKD2, FBP1, FBXL4, FCSK, FDX2, FDXR, FECH, FH, FIG4, FLAD1, FOLR1, FOXA2, FOXRED1, FUCA1, FUT8, G6PC1, GAA, GALC, GALNS, GALNT2, GAMT, GARS1, GATB, GATC, GATM, GBA, GBE1, GCK, GCSH, GFER, GFM1, GFM2, GFUS, GLA, GLB1, GLDC, GLRX5, GLUD1, GM2A, GMPPA, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPC3, GPHN, GRHPR, GTPBP3, GUSB, GYG1, GYS1, GYS2, HADH, HARS2, HCCS, HCFC1, HEXA, HEXB, HFE, HGSNAT, HIBCH, HLCS, HMBS, HNF1A, HNF1B, HNF4A, HOGA1, HSD17B10, HSD17B4, HSPD1, HTRA2, HYAL1, IARS2, IBA57, IDS, IDUA, INS, INSR, ISCA1, ISCA2, ISCU, KARS1, KCNJ11, KDM6A, KIF5A, KLF11, KMT2A, LAMP2, LARS2, LDHA, LIAS, LIPA, LIPT1, LIPT2, LMBRD1, LONP1, LRPPRC, LYRM4, LYRM7, MAGT1, MAN1B1, MAN2B1, MAN2B2, MANBA, MARS2, MCEE, MCOLN1, MDH2, MECR, MFF, MFSD8, MGAT2, MGME1, MICOS13, MICU1, MIEF2, MIPEP, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS25, MRPS28, MRPS34, MRPS7, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MTHFR, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTR, MTRFR, MT-RNR1, MT-RNR2, MTRR, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, NADK2, NAGA, NAGLU, NAGS, NARS2, NAXD, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NEUROD1, NFS1, NFU1, NGLY1, NPC1, NPC2, NSDHL, NSUN3, NUBPL, NUS1, OPA1, OPA3, OSTC, OTC, PARS2, PAX4, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PET100, PET117, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PMM2, PMPCA, PMPCB, PNPLA8, PNPT1, POLG, POLG2, PPA2, PPOX, PPT1, PRDX1, PRKAG2, PSAP, PTCD3, PUS1, PYGL, PYGM, QRSL1, RARS2, RFT1, RMND1, RNASEH1, RRM2B, RTN4IP1, SARS2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SDHD, SERAC1, SFXN4, SGSH, SLC16A1, SLC17A5, SLC19A2, SLC19A3, SLC25A1, SLC25A10, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A21, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC2A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC37A4, SLC39A8, SLC46A1, SLC6A8, SLC6A9, SMPD1, SPATA5, SPG7, SRD5A3, SSBP1, SSR3, SSR4, STT3A, STT3B, SUCLA2, SUCLG1, SUMF1, SURF1, TACO1, TAFAZZIN, TARS2, TCN2, TFAM, THAP11, TIMM22, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126B, TMEM165, TMEM199, TMEM70, TOP3A, TPK1, TPP1, TRIM37, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TUSC3, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROD, UROS, VARS2, VPS16, VPS33A, WARS2, YARS2, ZNF143

ACMG Genes

Genetic variation may sometimes be identified, which does not fit within the scope of the requested genetic analysis (so-called secondary findings). The reporting of these variants is limited to pathogenic alterations (ACMG classes 4 and 5) within selected genes, for which a treatment or course of action exists for you or your family (according to the current guidelines of the American College of Medical Genetics and Genomics; details on genes and associated diseases can be found here.

Pharmacogenetics

Pharmacogenetic analysis detects genetic changes that affect the effectiveness of drugs. Genetic variants that affect proteins responsible for the metabolism of substances can significantly change their tolerance and efficacy. These drugs include, among others, antidepressants, pain relievers, neuroleptics, chemotherapeutics, AIDS drugs, thrombosis drugs, anesthetics, beta-blockers, or statins.

The reduced activity of a specific enzyme can lead to an increased drug level in the standard dosage, which is often associated with undesirable side effects. With drugs that are only activated by metabolism, the therapeutic effect can be completely absent. Likewise, due to the resulting increased rate of degradation of the medicinal substance, an increased enzyme activity leads to inadequate effectiveness of the therapy.

The pharmacogenetics option analyzes known variants in 22 genes involved in the metabolism of drugs. If specific gene variants occur, the treating doctor can adapt the therapy individually. The pharmacogenetic analysis can minimize serious side effects and helps to avoid failure of the treatment.