Of nearly 800,000 newborns born in Germany each year, approximately 7% (~56,000 affected individuals) exhibit various abnormalities. The causes and severity of such abnormalities are very diverse and include external as well as hereditary (genetic) factors. It is assumed that at least 20% of all abnormalities have a genetic cause, i.e., are based on a change in the genetic material (DNA). Many people carry disease-causing variants in their genetic material without knowing it and without becoming ill themselves. This is referred to as “predisposition carriers” for a genetic disease. Predisposition carriers vary from person to person. If both parents are healthy but carry a pathogenic variant in a gene that is causative for recessively inherited diseases, there is a 25% risk that common offspring will be affected by the disease. Therefore, common or similar carrier status can lead to a risk for the child. This is especially the case if the couple has the same ethnic origin, or if there is a suspicion of a genetic disease in one of the families. If the couple is confirmed or possibly distantly related, genetic counseling and screening, if necessary, are advisable.
With the Family Planning Panel you can determine the genetic risk for your child even before pregnancy and thus contribute to the health of your future child.
Are you insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!
What We Offer with This Panel
Our Promise to You
Information about the Panel
In the Family Planning Panel, a total of 1,943 genes associated with severe early childhood diseases are investigated. Not only autosomal recessive diseases, but also X-linked inheritance, genetic imprinting, and dominantly inherited diseases with suspected germline mosaicism are considered. Both common genetic diseases in the general population, such as cystic fibrosis (CF) or spinal muscular atrophy (SMA), and very rarely occurring syndromes are specifically investigated. For the evaluation, we combine the data of both parents and determine the individual risk for your child. The result of the genetic examination enables you to make an informed assessment of the risks and opens up the possibility of prenatal diagnostics during pregnancy.
Our Service
- Comprehensive analysis of 1,943 genes.
- The analysis includes recessive, X-linked, imprinting-associated, and parental mosaic disorders still occurring in childhood.
- Combinations of SNVs and CNVs are considered.
- A repeat analysis for fragile X syndrome (FMR1 repeat) and a deletion analysis for spinal muscular atrophy (SMN1-MLPA) are included.
- Data from both parents are analyzed together and summarized in an easy-to-read report.
- Parental variants that cause a direct risk of disease in common offspring will be listed in the report.
- The panel is based on CeGaT’s ExomeXtra® enrichment.
Additional Services
- ACMG gene panel – more information
- Pharmacogenetics – more information
Sample Report
General Information
Material
- 1-2 ml EDTA blood
- Genomic DNA (1-2 µg)
- Order form and declaration of consent according to the German Genetic Diagnostics Act (GenDG)
Other sample material sources are possible on request. Please note: In case of insufficient sample quality, the analysis might fail. If you have more than one option of samples, please contact us (diagnostic-support@cegat.de) and we will assist you in selecting the optimal sample for your patient.
Turnaround Time
- Turnaround time: 3 – 4 weeks
Method
The enrichment of the coding regions and the adjacent intronic regions is performed using a in-solution hybridization technology. The selection of the targeted regions and the design of the enrichment baits is performed in-house. High throughput sequencing is performed on Illumina platforms. Bioinformatic processing of the data is achieved using an in-house computer cluster.
Following data processing, our team of scientists and specialists in human genetics analyze the data and issue a medical report.
Why Can Carrier Status Be Verified Before Family Planning?
Every healthy person carries disease-causing genetic alterations that lead to the occurrence of a disease in certain constellations. Therefore, a genetic examination with the partner helps to estimate the risk for severe genetic diseases in common offspring. The following graphics explain the inheritance pattern in a family constellation:
- There is a 1:4 (25 %) probability that the child does not inherit an altered gene copy from the parents and is not affected by the genetic disease.
- There is a 1:2 (50 %) probability that the child is a carrier like the parents but is not affected by the disease.
- There is a 1:4 (25 %) probability that the child inherits an altered gene copy from each parent and is affected by the genetic disease.
- There is a 1:2 (50 %) probability that children do not inherit the variant and are not affected by the disease.
- There is a 1:2 (50 %) probability that daughters are carriers (like the mother) but show no symptoms or rarely only mild symptoms.
- There is a 1:2 (50 %) probability that sons will inherit the altered gene copy and thus be affected by the disease.
Gene Directory – Family Planning Panel
AAAS, AARS1, AARS2, ABAT, ABCA12, ABCA3, ABCB11, ABCB4, ABCB7, ABCC6, ABCC8, ABCC9, ABCD1, ABCD4, ABHD12, ABHD5, ACACA, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACD, ACE, ACO2, ACOX1, ACOX2, ACP5, ACSL4, ACTA1, ACTL6B, ACY1, ADA, ADA2, ADAM17, ADAM22, ADAMTS13, ADAMTS19, ADAMTS2, ADAMTSL2, ADAR, ADARB1, ADAT3, ADCY1, ADCY5, ADCY6, ADGRG1, ADGRG6, ADGRV1, ADK, ADPRS, ADSL, AFF2, AFG2A, AFG3L2, AGA, AGK, AGL, AGPAT2, AGPS, AGRN, AGT, AGTPBP1, AGTR1, AGXT, AHCY, AHI1, AIFM1, AIMP1, AIMP2, AIPL1, AIRE, AK2, AKR1D1, ALAD, ALDH18A1, ALDH1A3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX12B, ALOXE3, ALPL, ALS2, ALX3, ALX4, AMACR, AMER1, AMN, AMPD1, AMPD2, AMT, ANK3, ANKLE2, ANKS6, ANO10, ANO5, ANOS1, ANTXR1, ANTXR2, AP1B1, AP1S1, AP1S2, AP3B1, AP3B2, AP3D1, AP4B1, AP4E1, AP4M1, AP4S1, APC2, APTX, AQP2, AR, ARFGEF2, ARG1, ARHGDIA, ARHGEF9, ARL13B, ARL3, ARL6, ARL6IP1, ARMC9, ARNT2, ARPC1B, ARSA, ARSB, ARSL, ARV1, ARX, ASAH1, ASCC1, ASL, ASNS, ASPA, ASPH, ASPM, ASS1, ATAD1, ATAD3A, ATCAY, ATIC, ATM, ATOH7, ATP13A2, ATP1A2, ATP2B3, ATP5F1D, ATP5MK, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V0A4, ATP6V1A, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8A2, ATP8B1, ATPAF2, ATR, ATRX, AUH, AVIL, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BANF1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCOR, BCS1L, BGN, BHLHA9, BIN1, BLM, BLNK, BLTP1, BMP1, BMP2, BMPER, BMPR1B, BOLA3, BPNT2, BRAT1, BRCA1, BRCA2, BRF1, BRWD3, BSCL2, BSND, BTD, BTK, BUB1B, C12ORF57, C19ORF12, C1QBP, C2CD3, C2ORF69, CA2, CA5A, CA8, CABP2, CACNA1D, CAD, CAMK2A, CANT1, CAPN3, CARD11, CARMIL2, CARS2, CASK, CASQ2, CASR, CAV1, CAVIN1, CBS, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC115, CCDC22, CCDC39, CCDC40, CCDC47, CCDC65, CCDC8, CCDC88A, CCDC88C, CCN6, CCNO, CCNQ, CCT5, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD55, CD70, CD79A, CD79B, CDC14A, CDC45, CDH11, CDH2, CDH23, CDH3, CDIN1, CDK10, CDK5RAP2, CDKL5, CDSN, CDT1, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP55, CEP57, CEP63, CEP78, CEP83, CERS1, CERS3, CFAP298, CFAP300, CFAP410, CFAP418, CFL2, CFP, CFTR, CHAT, CHKB, CHM, CHMP1A, CHRDL1, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHSY1, CHUK, CIB2, CIITA, CILK1, CISD2, CIT, CKAP2L, CLCN1, CLCN2, CLCN4, CLCN5, CLCN7, CLCNKB, CLDN1, CLDN10, CLDN14, CLDN16, CLDN19, CLIC5, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CNKSR2, CNNM2, CNPY3, CNTNAP1, CNTNAP2, COA6, COA8, COASY, COCH, COG1, COG2, COG4, COG5, COG6, COG7, COL11A1, COL11A2, COL13A1, COL17A1, COL18A1, COL1A2, COL27A1, COL3A1, COL4A3, COL4A4, COL4A5, COL6A1, COL6A2, COL6A3, COL7A1, COL9A2, COLEC10, COLEC11, COLQ, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, CORO1A, COX10, COX14, COX15, COX20, COX6A2, COX6B1, COX7B, COX8A, CPLANE1, CPLX1, CPS1, CPT1A, CPT2, CRADD, CRB1, CRB2, CRBN, CREB3L1, CRIPT, CRLF1, CRPPA, CRTAP, CRYAA, CRYAB, CSF1R, CSF2RB, CSF3R, CSPP1, CSTA, CSTB, CTC1, CTDP1, CTNNA2, CTNS, CTPS1, CTSA, CTSD, CTSK, CTU2, CUL4B, CUL7, CWC27, CWF19L1, CYB5R3, CYBA, CYBB, CYC1, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP24A1, CYP27A1, CYP27B1, CYP2R1, CYP2U1, CYP4F22, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCAF17, DCDC2, DCHS1, DCLRE1C, DCX, DDB2, DDC, DDHD1, DDHD2, DDR2, DDX11, DDX3X, DDX59, DEAF1, DEGS1, DENND5A, DGAT1, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DHH, DHODH, DHTKD1, DHX37, DIAPH1, DIS3L2, DKC1, DLAT, DLD, DLG3, DLL3, DLX5, DMD, DMP1, DMXL2, DNA2, DNAAF11, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH9, DNAJC12, DNAJC19, DNAJC21, DNAJC3, DNAJC6, DNM1L, DNM2, DNMT3B, DOCK2, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DONSON, DPAGT1, DPH1, DPM1, DPM2, DPYD, DRC1, DSE, DSG1, DSP, DST, DSTYK, DUOX2, DUOXA2, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYSF, EARS2, EBP, ECEL1, ECHS1, EDA, EDAR, EDARADD, EDN3, EDNRB, EFEMP2, EFL1, EFNB1, EGR2, EIF2AK3, EIF2AK4, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4A3, ELAC2, ELMO2, ELMOD3, ELOVL4, ELP1, ELP2, EMC1, EMC10, EMD, EMG1, EML1, ENPP1, ENTPD1, EOGT, EPCAM, EPG5, EPM2A, EPRS1, EPS8, EPS8L2, ERAL1, ERBB3, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERLIN1, ERLIN2, ESCO2, ESPN, ESRRB, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOC3L2, EXOSC3, EXOSC8, EXOSC9, EXPH5, EXT2, EXTL3, F10, F13A1, F2, F7, F8, F9, FA2H, FADD, FAH, FAM149B1, FAM20A, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FASTKD2, FAT4, FBLN5, FBP1, FBXL4, FBXO7, FCSK, FERMT3, FEZF1, FGA, FGB, FGD1, FGD4, FGF3, FGFR3, FGG, FH, FHL1, FIG4, FITM2, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNA, FLNB, FLVCR1, FLVCR2, FOLR1, FOXE1, FOXE3, FOXL2, FOXN1, FOXP3, FOXRED1, FRAS1, FREM1, FREM2, FRMPD4, FRRS1L, FSHB, FTCD, FTL, FTO, FTSJ1, FUCA1, FUT8, FXN, G6PC1, G6PC3, GAA, GAD1, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GAS8, GATA1, GATM, GBA1, GBA2, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GDF1, GDF5, GDF6, GDI1, GEMIN4, GFER, GFM1, GFM2, GFPT1, GHR, GIPC3, GJA1, GJB2, GJB3, GJB6, GJC2, GK, GLA, GLB1, GLDC, GLDN, GLE1, GLIS3, GLRX5, GLS, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNB5, GNPAT, GNPTAB, GNPTG, GNRH1, GNRHR, GNS, GOLGA2, GORAB, GOSR2, GOT2, GPAA1, GPC3, GPC6, GPHN, GPSM2, GPT2, GPX4, GRHL2, GRHPR, GRIA3, GRID2, GRIK2, GRIN1, GRIP1, GRM1, GRM7, GRXCR1, GSS, GTF2H5, GTPBP3, GUCY1A1, GUCY2C, GUF1, GUSB, GYS1, GYS2, GZF1, HACD1, HACE1, HADH, HADHA, HADHB, HAMP, HARS1, HARS2, HAX1, HBB, HCCS, HCFC1, HDAC8, HEPACAM, HERC1, HERC2, HES7, HESX1, HEXA, HEXB, HGF, HGSNAT, HIBCH, HIKESHI, HINT1, HJV, HK1, HLCS, HMGCL, HMGCS2, HMX1, HNRNPH2, HOGA1, HOXA1, HOXC13, HPD, HPDL, HPGD, HPRT1, HPS1, HPSE2, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPD1, HSPG2, HTRA2, HUWE1, HYAL1, HYCC1, HYLS1, IARS1, IARS2, IBA57, ICOS, IDS, IDUA, IER3IP1, IFIH1, IFNGR1, IFNGR2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT56, IFT74, IFT80, IFT81, IGBP1, IGF1, IGF1R, IGFBP7, IGHMBP2, IGSF1, IHH, IKBKB, IL10RA, IL11RA, IL12RB1, IL1RAPL1, IL1RN, IL21R, IL2RA, IL2RB, IL2RG, IL7R, ILDR1, INPP5E, INPP5K, INPPL1, INS, INSR, INTU, INVS, IPO8, IQCB1, IQSEC1, IQSEC2, IRAK4, IRF8, IRX5, ISCA1, ISCA2, ITCH, ITGA3, ITGA6, ITGA7, ITGA8, ITGB4, ITK, ITPA, ITPR1, IVD, JAGN1, JAK3, JAM2, JAM3, JUP, KARS1, KATNB1, KATNIP, KCNE1, KCNJ1, KCNJ10, KCNJ11, KCNMA1, KCNQ1, KCTD7, KDELR2, KDM5B, KDM5C, KDM6A, KIAA0586, KIAA0753, KIDINS220, KIF14, KIF1A, KIF1C, KIF7, KIFBP, KISS1R, KLHL15, KLHL40, KLHL41, KLHL7, KNL1, KPTN, KRT10, KRT14, KRT18, KRT5, KRT8, KY, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMA3, LAMB1, LAMB2, LAMB3, LAMC2, LAMC3, LAMP2, LARGE1, LARP7, LARS2, LAS1L, LAT, LBR, LDHA, LDLR, LFNG, LGI4, LHB, LHFPL5, LHX3, LIAS, LIFR, LIG4, LIMS2, LINS1, LIPA, LIPT1, LMBR1, LMBRD1, LMNA, LMOD3, LNPK, LONP1, LOXHD1, LPIN1, LPIN2, LPL, LRBA, LRP2, LRP4, LRP5, LRPPRC, LRRC56, LRTOMT, LTBP2, LTBP3, LTBP4, LYRM4, LYRM7, LYST, LZTFL1, LZTR1, MAB21L2, MAG, MAGI2, MAGT1, MALT1, MAMLD1, MAN1B1, MAN2B1, MANBA, MAOA, MAP3K20, MAPKBP1, MARS1, MARVELD2, MASP1, MAT1A, MATN3, MBOAT7, MBTPS2, MC2R, MCCC1, MCCC2, MCEE, MCM4, MCOLN1, MCPH1, MDH2, MECP2, MECR, MED12, MED17, MED23, MED25, MEGF10, MEGF8, MEOX1, MESD, MESP2, MET, METTL23, METTL5, MFN2, MFRP, MFSD2A, MFSD8, MGAT2, MGME1, MGP, MICOS13, MICU1, MID1, MIPEP, MITF, MKKS, MKS1, MLC1, MLPH, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMP13, MMP2, MMP21, MMUT, MOCS1, MOCS2, MOGS, MPDU1, MPDZ, MPI, MPL, MPLKIP, MPV17, MPZ, MPZL2, MRE11, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS34, MSL3, MSMO1, MSN, MSRB3, MSTO1, MTFMT, MTHFD1, MTHFR, MTM1, MTMR2, MTO1, MTR, MTRFR, MTRR, MTTP, MUSK, MUTYH, MVK, MYBPC1, MYBPC3, MYD88, MYH11, MYH3, MYH7, MYL3, MYMK, MYO15A, MYO18B, MYO3A, MYO5A, MYO5B, MYO6, MYO7A, MYO9A, MYOD1, MYPN, MYSM1, NAA10, NADSYN1, NAGA, NAGLU, NAGS, NALCN, NANS, NARS1, NARS2, NAXD, NAXE, NBAS, NBN, NCAPD3, NCF1, NCF2, NCF4, NCKAP1L, NDE1, NDP, NDRG1, NDST1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB3, NDUFB8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECAP1, NECTIN1, NECTIN4, NEK1, NEK8, NEK9, NEMF, NEU1, NEUROG3, NEXMIF, NFASC, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHP2, NHS, NIPAL4, NKAP, NKX3-2, NKX6-2, NMNAT1, NNT, NODAL, NONO, NOP10, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NR0B1, NR1H4, NRROS, NRXN1, NSDHL, NSMCE2, NSMCE3, NSUN2, NT5C2, NT5C3A, NTNG2, NTRK1, NUBPL, NUDT2, NUP107, NUP133, NUP188, NUP62, NUP88, NUP93, NYX, OBSL1, OCLN, OCRL, ODAD1, ODAD2, OFD1, OGDH, OPA1, OPA3, OPHN1, ORAI1, ORC1, ORC4, ORC6, OSGEP, OSTM1, OTC, OTOA, OTOF, OTOG, OTOGL, OTUD5, OTUD6B, OTULIN, OXCT1, OXR1, P3H1, PAH, PAK3, PAM16, PANK2, PAPSS2, PARN, PARS2, PAX3, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH15, PCDH19, PCK1, PCNT, PCSK1, PCYT1A, PCYT2, PDE10A, PDE6D, PDE6G, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDZD7, PEPD, PERCC1, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHEX, PHF6, PHF8, PHGDH, PHKG2, PHYH, PI4KA, PIBF1, PIEZO1, PIEZO2, PIGA, PIGB, PIGG, PIGK, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGV, PIGY, PIK3CD, PIK3R1, PIP5K1C, PISD, PITX3, PJVK, PKD1L1, PKHD1, PKLR, PLA2G6, PLAA, PLCB1, PLCB4, PLCE1, PLEC, PLEKHG2, PLEKHG5, PLG, PLK4, PLOD1, PLOD2, PLOD3, PLP1, PLPBP, PLS3, PLVAP, PMM2, PMP22, PMPCA, PMPCB, PNKP, PNP, PNPLA1, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POC1B, POLA1, POLE, POLG, POLG2, POLR1C, POLR1D, POLR3A, POLR3B, POMC, POMGNT1, POMGNT2, POMK, POMP, POMT1, POMT2, POP1, POR, PORCN, POU1F1, POU3F4, PPA2, PPIB, PPIP5K2, PPP1R15B, PPP1R21, PPT1, PQBP1, PRDM12, PRDM5, PRDX1, PREPL, PRF1, PRG4, PRICKLE1, PRKCD, PRKDC, PRKRA, PRMT7, PROC, PRODH, PROP1, PROS1, PRPS1, PRRX1, PRSS12, PRSS56, PRUNE1, PRX, PSAP, PSAT1, PSMB8, PSPH, PTCHD1, PTF1A, PTH1R, PTPN14, PTPN23, PTPRC, PTPRQ, PTRH2, PTS, PUS1, PUS7, PXDN, PYCR1, PYCR2, PYGL, PYGM, PYROXD1, QARS1, QDPR, RAB18, RAB23, RAB27A, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAC2, RAD21, RAD50, RAD51C, RAG1, RAG2, RALGAPA1, RAPSN, RARB, RARS1, RARS2, RAX, RBBP8, RBCK1, RBM10, RBM8A, RDH11, RDX, RECQL4, RELN, REN, RETREG1, RFT1, RFX5, RFX6, RFXANK, RFXAP, RIC1, RIMS2, RIN2, RINT1, RIPK1, RIPK4, RIPOR2, RLIM, RMND1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF13, RNF168, RNU4ATAC, ROBO3, ROGDI, ROR1, ROR2, RPE65, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPS6KA3, RRM2B, RSPH1, RSPH3, RSPO2, RSPO4, RSPRY1, RTEL1, RTN4IP1, RTTN, RUSC2, RXYLT1, RYR1, S1PR2, SACS, SAMD9, SAMHD1, SAR1B, SARS2, SASS6, SBDS, SBF1, SBF2, SC5D, SCAPER, SCARB2, SCARF2, SCN1B, SCN4A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SCYL1, SCYL2, SDCCAG8, SDHA, SDHAF1, SDHD, SEC23A, SEC23B, SEC24D, SELENOI, SELENON, SEPSECS, SERAC1, SERPINB6, SERPINF1, SERPINH1, SETX, SFTPB, SFXN4, SGCA, SGCB, SGCD, SGCG, SGO1, SGPL1, SGSH, SH2D1A, SH3PXD2B, SH3TC2, SHOX, SIL1, SKIC2, SKIC3, SLC10A7, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC18A3, SLC19A2, SLC19A3, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC27A4, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC30A10, SLC33A1, SLC34A1, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC37A4, SLC39A13, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC46A1, SLC4A1, SLC4A4, SLC52A2, SLC52A3, SLC5A1, SLC5A5, SLC5A6, SLC5A7, SLC6A3, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC9A1, SLC9A3, SLC9A6, SLX4, SMAD4, SMARCAL1, SMC1A, SMOC1, SMPD1, SMPD4, SMS, SNAP29, SNORD118, SNX10, SNX14, SOD1, SOST, SOX3, SP110, SP7, SPAG1, SPARC, SPART, SPEG, SPG11, SPINK5, SPINT2, SPR, SPTBN2, SPTBN4, SQSTM1, SRD5A2, SRD5A3, SSR4, ST14, ST3GAL3, ST3GAL5, STAC3, STAG2, STAMBP, STAR, STAT1, STAT2, STAT5B, STIL, STIM1, STN1, STRA6, STRADA, STS, STT3A, STUB1, STX11, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SVBP, SYN1, SYNE1, SYNE4, SYNJ1, SYP, SZT2, TAC3, TACO1, TACR3, TAF1, TAF13, TAF2, TAF6, TAFAZZIN, TALDO1, TANGO2, TAP1, TAPT1, TARS2, TASP1, TAT, TBC1D20, TBC1D23, TBC1D24, TBC1D8B, TBCD, TBCE, TBCK, TBX15, TBX19, TBX22, TBX4, TBXAS1, TCAP, TCF12, TCIRG1, TCN2, TCTN2, TCTN3, TDP2, TECPR2, TECTA, TELO2, TENM3, TENT5A, TERT, TF, TFR2, TGDS, TGFB1, TGM1, TH, THOC2, THOC6, TIMM50, TIMM8A, TIMMDC1, TJP2, TK2, TMC1, TMCO1, TMEM107, TMEM126A, TMEM126B, TMEM132E, TMEM138, TMEM165, TMEM199, TMEM216, TMEM231, TMEM237, TMEM260, TMEM38B, TMEM67, TMEM70, TMEM94, TMIE, TMPRSS3, TMPRSS6, TMTC3, TMX2, TNFRSF11A, TNFRSF11B, TNFRSF13B, TNFSF11, TNNT1, TOE1, TOP3A, TP53RK, TPI1, TPK1, TPM3, TPP1, TPRKB, TPRN, TRAF3IP1, TRAIP, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC4, TRAPPC9, TRDN, TREX1, TRIM2, TRIM32, TRIM37, TRIOBP, TRIP11, TRIP13, TRIP4, TRIT1, TRMT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRNT1, TRPM6, TRPV6, TSEN15, TSEN2, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TSPEAR, TSPYL1, TTC19, TTC21B, TTC7A, TTC8, TTI2, TTN, TTPA, TUBGCP2, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWIST2, TWNK, TXN2, TXNDC15, TXNL4A, TYK2, TYMP, TYR, TYRP1, UBA1, UBA5, UBE2A, UBE2T, UBE3B, UBR1, UCHL1, UFC1, UFM1, UGDH, UGP2, UGT1A1, UMPS, UNC13D, UNC80, UPF3B, UQCC2, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROC1, UROS, USB1, USH1C, USH1G, USH2A, USP18, USP53, USP9X, UVSSA, VAC14, VAMP1, VARS1, VARS2, VDR, VIPAS39, VLDLR, VMA21, VPS11, VPS13B, VPS13D, VPS33A, VPS33B, VPS37A, VPS41, VPS45, VPS51, VPS53, VRK1, VSX2, WARS2, WAS, WASHC5, WBP2, WDPCP, WDR19, WDR35, WDR4, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WHRN, WNK1, WNT1, WNT10A, WNT10B, WNT2B, WNT3, WNT4, WNT7A, WRAP53, WRN, WWOX, XIAP, XPA, XPC, XRCC2, XRCC4, XYLT1, XYLT2, YARS2, YIF1B, ZAP70, ZBTB24, ZC3H14, ZC4H2, ZDHHC9, ZFYVE26, ZIC3, ZMPSTE24, ZNF335, ZNF711, ZNHIT3 (1937 Gene)
Disease-relevant changes (SNV/CNV) in the genes listed above will be reported (diseases underlying a recessive/X-chromosomal inheritance pattern). In addition, disease-causing alterations (SNV/CNV) may be reported in other genes known to be subject to genetic imprinting. Furthermore, it may be possible to report variants in other genes associated with dominantly inherited diseases if these are present as a genetic mosaic in one of the persons seeking advice. Only variants in genes are reported, which, within the framework of the respective underlying inheritance processes, can potentially lead to serious diseases in the planned offspring of the couple seeking advice, with an assumed onset of disease in childhood. Single variants of a parent, that might lead to the potential offspring being an inherited carrier without expected disease onset, are not reported. The findings are limited to variants of ACMG classes 4(LP)/5(P), that are confirmed to be disease-relevant according to current data. Individual ACMG class 3(VUS) variants may be additionally considered in individual cases at a physician‘s discretion.
Additional Services
HLA-Typing (HLA01)
HLA class I (Gene A, B, C) and HLA class II (Gene DPA1, DPB1, DQA1, DQB1, DRB1, DRB3, DRB4, DRB5)
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).
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 twenty-one 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.
Frequently Asked Questions
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Diagnostic Support
We will assist you in selecting the diagnostic strategy – for each patient.
