Medizinisches Versorgungszentrum Mitteldeutscher Praxisverbund Humangenetik

Official name: Medizinisches Versorgungszentrum Mitteldeutscher Praxisverbund Humangenetik GmbH

792 capabilities Accredited since May 2025 Verified May 2026 One of 3,188 in Germany
Send Enquiry

Send one structured enquiry and we chase the reply for you. No cold email, no chasing.

Details

Friedrichstraße 38/40
Dresden 01067 , Germany

Accreditation

Active DAkkS D-ML-21438-01-00
Unclaimed listing · Claim this lab

Offers comprehensive medical laboratory diagnostics spanning clinical chemistry, cytogenetics, molecular genetics, microbiology, and virology with extensive testing capabilities including ligand assays and chromosomal analysis.

Accreditation Details

Accreditation Body

DAkkS

Number

D-ML-21438-01-00

Status

Active

Since

28 May 2025

Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.

Download Scope PDF

Additional scope documents

Download Scope PDF · D-ML-21438-01-01

Test Capabilities (792)
Standard Reference Description Category
Angeborener Chromosomensatz angeborener Chromosomensatz Biocompatibility (ISO 10993)
Arrhythmogene rechtsventrikuläre Arrhythmogene rechtsventrikuläre Biocompatibility (ISO 10993)
Erworbener Chromosomensatz erworbener Chromosomensatz Biocompatibility (ISO 10993)
HNF-4alpha-Gen (Mody HNF-4alpha-Gen (Mody Biocompatibility (ISO 10993)
Akute myeloische Leukämie Akute myeloische Leukämie Chromatography (GC, HPLC)
Fruktose-Intoleranz Wasserstoff Fruktoseintoleranz Chromatography (GC, HPLC)
(VWF:Ac) (VWF:CB) Clinical Chemistry
Plazentarer Wachstumsfaktor plazentarer Wachstumsfaktor Clinical Chemistry
90°-Winkeln 90°-Winkeln Dimensional / Geometric
ELN Kugeln Dimensional / Geometric
Anstiegszeit t r Anstiegszeit t r Electrical
31 Mutationen im CFTR 31 Mutationen im CFTR Elemental Analysis
Aarskog-Scott Syndrom Aarskog-Scott Syndrom Elemental Analysis
Absence-Epilepsie der Kindheit Absence-Epilepsie der Kindheit Elemental Analysis
Achondrogenesie (ACG) Achondrogenesie (ACG) Elemental Analysis
Alpha 1-Antitrypsin-Mangel Alpha-1-Antitrypsin-Mangel Elemental Analysis
Branchio-Oto-Renales-Syndrom Branchio-Oto-Renales-Syndrom Elemental Analysis
CACNA1H, EFHC1, GABRA1, GABRB3, GABRG2, JRK, NIPA2, SLC2A1 CACNA1H, EFHC1, GABRA1, GABRB3, GABRG2, JRK, NIPA2, SLC2A1 Elemental Analysis
CACNA1H, EFHC1, GABRA1, GABRG2, JRK CACNA1H, EFHC1, GABRA1, GABRG2, JRK Elemental Analysis
CDH1; erbl. Magenkarzinom CDH1; erbl. Magenkarzinom Elemental Analysis
COL2A1, SLC26A2 COL2A1, SLC26A2 Elemental Analysis
Costello Syndrom Costello Syndrom Elemental Analysis
Cowden Syndrom Cowden Syndrom Elemental Analysis
Epilepsie-Panel Epilepsie-Panel Elemental Analysis
Epilepsie-Panel SLC2A1 Epilepsie-Panel SLC2A1 Elemental Analysis
FGD1 FGD1 Elemental Analysis
FGFR1; Kallmann-Syndrom FGFR1; Kallmann-Syndrom Elemental Analysis
GAA; Morbus Pompe GAA; Morbus Pompe Elemental Analysis
GLA; Morbus Fabry GLA; Morbus Fabry Elemental Analysis
HFE Hämochromatose --HFE Elemental Analysis
Holt-Oram Syndrom Holt-Oram-Syndrom Elemental Analysis
Hyper-IgE Syndrom SPINK5, Hyper IGE Syndrom Elemental Analysis
Hämochromatose TRF2/HFE3, Hämochromatose Elemental Analysis
Silver-Russell Syndrom Silver-Russell-Syndrom: Elemental Analysis
Williams-Beuren Syndrom Williams-Beuren-Syndrom: Elemental Analysis
Gastroenteritis Panel: Gastroenteritis Panel: Food Safety Testing
Haarzellleukämie Resterkrankung bei Haarzellleukämie Food Safety Testing
° und °°: Die Proben werden ° und °°: Die Proben werden Histopathology / Cytology
Ak LGI1 Ak LGI1 Immunology / Serology
Crossmatch B-Zellen LCT Crossmatch B-Zellen LCT Immunology / Serology
Immunstatus erweitert Immunstatus erweitert Immunology / Serology
Schwangerschaftsassoziiertes Schwangerschaftsassoziiertes Immunology / Serology
(14q32.2) (14q32.2) Molecular Diagnostics / PCR
(ABCA4, BEST1, C1QTNF5, C3, CDH3, CDHR1, CFH, CNGB3, CRB1, CTNNA1, DRAM2, EFEMP1, ELOVL4, FBLN5, GUCA1B, IMPG1, IMPG2, KIF11, MAPKAPK3, MFSD8, PRDM13, PROM1, PRPH2, RDH5, RP1, RP1L1, RPE65, RPGR, RS1, TIMP3) MOCS2, MPV17, MRPS16, MTFMT, MTHFR, MTO1, MTOR, MTPAP, MYBPC1, NDUFA1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, Molecular Diagnostics / PCR
(ACTC1, ACTN2, ALPK3, ANKRD1, CALR3, CASQ2, CAV3, CRYAB, CSRP3, DES, FHL1, FHOD3, FLNC, GAA, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, RAF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL) ADNP, ALDH5A1, AP1S2, ARX, AUTS2, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, DHCR7, DPP6, EHMT1, FGD1, FOXG1, FOXP1, FOXP2, GRIN2B, HPRT1, KDM5C, L1CAM, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, OPHN1, PCDH19, Molecular Diagnostics / PCR
(BWS) Wiedemann-Syndrom (BWS): 11p15 Molecular Diagnostics / PCR
(BWS) HRAS (BWS) HRAS Molecular Diagnostics / PCR
(BWS) Laborpanel 1, Laborpanel (BWS) Laborpanel 1, Laborpanel Molecular Diagnostics / PCR
(BWS) Laborpanel 5 (BWS) Laborpanel 5 Molecular Diagnostics / PCR
(BWS) Laborpanel 5, Twist (BWS) Laborpanel 5, Twist Molecular Diagnostics / PCR
(BWS) NSD1, NFIX, GPC3 (BWS) NSD1, NFIX, GPC3 Molecular Diagnostics / PCR
(LRG 525t1: Exons 7 und 9) (LRG 525t1: Exons 7 und 9) Molecular Diagnostics / PCR
(LRG 549t1:c 103G>T) (LRG 549t1:c 103G>T) Molecular Diagnostics / PCR
(LRG_1194t1, Exon 15 anteilig) (LRG_1194t1, Exon 15 anteilig) Molecular Diagnostics / PCR
(LRG_1194t1, Exon 15 anteilig), KCNJ10, MBD5, PRRT2, SCN1B, SCN2A (LRG_1194t1, Exon 15 anteilig), KCNJ10, MBD5, PRRT2, SCN1B, SCN2A Molecular Diagnostics / PCR
(LRG_1287t1:Exon 17) (LRG_1287t1:Exon 17) Molecular Diagnostics / PCR
(LRG_1406t1: Promoter, (LRG_1406t1: Promoter, anteilig) Molecular Diagnostics / PCR
(LRG_338t1:c.-13907T>C) (LRG_338t1:c.-13907T>C) Molecular Diagnostics / PCR
(LRG_344t1: Exons 2 und (LRG_344t1: Exons 2 und 3), Molecular Diagnostics / PCR
(LRG_457t1: Exons 14, 15 2), EZH2, FLT3 (LRG_457t1: Molecular Diagnostics / PCR
(LRG_458t1: Exon 11), RUNX1, ASXL1 (LRG_630t1: Exon 12-13), KRAS, NRAS, DNMT3A (LRG_459t4: NPM1 (LRG_458t1: Exon 11), RUNX1, TP53, BCOR, CUX1, Molecular Diagnostics / PCR
(LRG_51t1: Exon 2), MYD88 15), CXCR4 (LRG_51t1: Exon Molecular Diagnostics / PCR
(LRG_549t1:c.103G>T) (LRG_549t1:c.103G>T) Molecular Diagnostics / PCR
(LRG_610t1: Exon 4), IDH2 15 und 20), IDH1 (LRG_610t1: Molecular Diagnostics / PCR
(LRG_611t1: Exon 4), JAK2 4), IDH2 (LRG_611t1: Exon Molecular Diagnostics / PCR
(LRG_624t2: Exons 13-17), und 34), SF3B1 (LRG_624t2: Molecular Diagnostics / PCR
(LRG_624t2: Exons 13-17), Exon 23), SF3B1 (LRG_624t2: Molecular Diagnostics / PCR
(LRG_630t1: Exon 12-13), ASXL1 (LRG_630t1: Exon 11-13), Molecular Diagnostics / PCR
(LRG_733 t1:c.-41_-40dup), (LRG_733 t1:c.-41_-40dup), Molecular Diagnostics / PCR
(LRG_875t1: c.420-c.840 (LRG_875t1: c.880-c.1137), Molecular Diagnostics / PCR
(NM_000384: c.1-c.82) (NM_000384: c.1-c.82) Molecular Diagnostics / PCR
(NM_001718: c.1-c.500) (NM_001718: c.1-c.500) Molecular Diagnostics / PCR
(PARK6), SLC6A3, SNCA (PARK6), SLC6A3, SNCA Molecular Diagnostics / PCR
(SPG15), ZFYVE27 (SPG33) (SPG15), ZFYVE27 (SPG33) Molecular Diagnostics / PCR
(SPG22/MCT8), SLC2A1, SLC33A1 (SPG22/MCT8), SLC2A1, SLC33A1 Molecular Diagnostics / PCR
(SPG31), RTN2 (SPG12), SLC16A2 (SPG31), RTN2 (SPG12), SLC16A2 Molecular Diagnostics / PCR
(SPG42), SPAST (SPG4), SPG11, SPG7, VAMP1 (SPAX1), ZFYVE26 (SPG42), SPAST (SPG4), SPG11, SPG7, VAMP1 (SPAX1), ZFYVE26 Molecular Diagnostics / PCR
(SPG42), SPAST (SPG4), SPG7, VAMP1 (SPAX1), ZFYVE26 (SPG42), SPAST (SPG4), SPG7, VAMP1 (SPAX1), ZFYVE26 Molecular Diagnostics / PCR
(rs1799752) ACE I-/ D-Variante (rs1799752) Molecular Diagnostics / PCR
10-16), SRSF2 (LRG_640t1: 10-16), SRSF2 (LRG_640t1: Molecular Diagnostics / PCR
11-13), BCORL1, CBL (LRG_608t1: 11-13), BCORL1, CBL (LRG_608t1: Molecular Diagnostics / PCR
172-c.-25), ASXL1 (LRG_630t1: 172-c.-25), ASXL1 (LRG_630t1: Molecular Diagnostics / PCR
2, 4 und 5), NOTCH1 (LRG_1122t1: 2, 4 und 5), NOTCH1 (LRG_1122t1: Molecular Diagnostics / PCR
2-6; GNAS Exon 8-9; HRAS 2-6; GNAS Exon 8-9; HRAS Molecular Diagnostics / PCR
2.5,Laborpanel 4 2.5,Laborpanel 4 Molecular Diagnostics / PCR
22q11.2, 4q35, 8p23, 9q34.3, 10p14, 17p13.3 22q11.2, 4q35, 8p23, 9q34.3, 10p14, 17p13.3 Molecular Diagnostics / PCR
5, Epilepsie-Panel Laborpanel 5, Epilepsie-Panel Molecular Diagnostics / PCR
5, Epilepsie-Panel, Twist 5, Epilepsie-Panel, Twist Molecular Diagnostics / PCR
6), WT1 (LRG_525t1: Exons 6), WT1 (LRG_525t1: Exons Molecular Diagnostics / PCR
ABCB4, ABCB11, ATP8B1, TJP2, MYO5B, SLC25A13, TRMU ABCB4, ABCB11, ATP8B1, TJP2, MYO5B, SLC25A13, TRMU Molecular Diagnostics / PCR
ABHD12, ACTG1, ADGRV1 ABHD12, ACTG1, ADGRV1 Molecular Diagnostics / PCR
ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, TGFBR2 Molecular Diagnostics / PCR
ADCY5, ARSA, FRRS1L, FTL, GNAO1, JPH3, KCNA1, NKX2-1, PRNP, RNF216, VPS13A, XK ADCY5, ARSA, FRRS1L, FTL, GNAO1, JPH3, KCNA1, NKX2-1, PRNP, RNF216, VPS13A, XK Molecular Diagnostics / PCR
ADCY5, PNKD, PRRT2, SLC2A1 ADCY5, PNKD, PRRT2, SLC2A1 Molecular Diagnostics / PCR
AFG3L2, KIF1C, MARS2, MTPAP, SACS, SPG7, VAMP1, ZFYVE26, GBA2 AFG3L2, KIF1C, MARS2, MTPAP, SACS, SPG7, VAMP1, ZFYVE26, GBA2 Molecular Diagnostics / PCR
AFG3L2, KIF1C, MARS2, SACS, SPG7, VAMP1, ZFYVE26, GBA2 AFG3L2, KIF1C, MARS2, SACS, SPG7, VAMP1, ZFYVE26, GBA2 Molecular Diagnostics / PCR
ALDOB ALDOB Molecular Diagnostics / PCR
ALS2, ATL1 (SPG3a), BSCL2 ALS2, ATL1 (SPG3a), BSCL2 Molecular Diagnostics / PCR
AMPD1 (rs17602729) AMPD1 (rs17602729) Molecular Diagnostics / PCR
ANKRD11, HDAC8, NIPBL, SMC1A, SMC3 ANKRD11, HDAC8, NIPBL, SMC1A, SMC3 Molecular Diagnostics / PCR
AOC1 (ABP1, DAO), HNMT AOC1 (ABP1, DAO), HNMT Molecular Diagnostics / PCR
AOC1 (rs2052129, rs2268999, rs10156191, rs1049742) AOC1 (rs2052129, rs2268999, rs10156191, rs1049742) Molecular Diagnostics / PCR
APC, BMPR1A, CHEK2, MUTYH, PTEN, SMAD4, STK11 APC, BMPR1A, CHEK2, MUTYH, PTEN, SMAD4, STK11 Molecular Diagnostics / PCR
APC, BMPR1A, CHEK2,GREM1,MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, SMAD4, STK11 APC, BMPR1A, CHEK2,GREM1,MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, SMAD4, STK11 Molecular Diagnostics / PCR
APC, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE,PTCH1, SMARCE1, SUFU, TP53, NF1, NF2, TSC1, TSC2 APC, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE,PTCH1, SMARCE1, SUFU, TP53, NF1, NF2, TSC1, TSC2 Molecular Diagnostics / PCR
APOE, APP, CHCHD10, CHMP2B, FUS, GRN, ITM2B, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SIGMAR1, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VCP, VPS35 APOE, APP, CHCHD10, CHMP2B, FUS, GRN, ITM2B, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SIGMAR1, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VCP, VPS35 Molecular Diagnostics / PCR
ARID1A, ARID1B, KMT2A ARID1A, ARID1B, KMT2A Molecular Diagnostics / PCR
ARX ARX Molecular Diagnostics / PCR
ARX, STXBP1 ARX, STXBP1 Molecular Diagnostics / PCR
ARX-assoziierte Erkrankungen ARX-assoziierte Erkrankungen Molecular Diagnostics / PCR
ASPM, CDK5RAP2, CENPJ, STIL, WDR62 ASPM, CDK5RAP2, CENPJ, STIL, WDR62 Molecular Diagnostics / PCR
ASXL3 ASXL3 Molecular Diagnostics / PCR
ATM ATM Molecular Diagnostics / PCR
ATP1A2, CACNA1A, POLG, SCN1A, SLC2A1, SLC1A3, TREX1 ATP1A2, CACNA1A, POLG, SCN1A, SLC2A1, SLC1A3, TREX1 Molecular Diagnostics / PCR
ATP1A3, FBXO7, LRRK2 ATP1A3, FBXO7, LRRK2 Molecular Diagnostics / PCR
ATP7B Panel; HFE, HJV, HAMP, FTL, TMPRSS6, ATP7B Molecular Diagnostics / PCR
ATP7B; Morbus Wilson ATP7B; Morbus Wilson Molecular Diagnostics / PCR
AZF, SRY AZF, SRY Molecular Diagnostics / PCR
Achondrogenesie (ACG) COL2A1 Achondrogenesie (ACG) COL2A1 Molecular Diagnostics / PCR
Achondrogenesie (ACG) SLC26A2, TRIP11 Achondrogenesie (ACG) SLC26A2, TRIP11 Molecular Diagnostics / PCR
Adenomatöse Polyposis Familiäre Adenomatöse Polyposis Molecular Diagnostics / PCR
Adipositas Autosomal dominante Adipositas Molecular Diagnostics / PCR
Adipositas LEPR, POMC, MC4R, MC3R Adipositas LEPR, POMC, MC4R, MC3R Molecular Diagnostics / PCR
Adipositas LEPR, POMC, SIM1, MC4R, MC3R Adipositas LEPR, POMC, SIM1, MC4R, MC3R Molecular Diagnostics / PCR
Adrenogenitales Syndrom Adrenogenitales Syndrom Molecular Diagnostics / PCR
Alagille Syndrom Alagille-Syndrom: JAG1, NOTCH2, BMP2 Molecular Diagnostics / PCR
Alagille Syndrom JAG1 Alagille Syndrom JAG1 Molecular Diagnostics / PCR
Alport Syndrom Alport-Syndrom Molecular Diagnostics / PCR
Alport Syndrom COL4A3, COL4A4, COL4A5 Alport Syndrom COL4A3, COL4A4, COL4A5 Molecular Diagnostics / PCR
Alport Syndrom COL4A3, COL4A5 Alport Syndrom COL4A3, COL4A5 Molecular Diagnostics / PCR
Alzheimer-Demenz Hereditäre Alzheimer Demenz: Molecular Diagnostics / PCR
Alzheimer-Demenz APOE, TARDBP, CHMP2B Alzheimer-Demenz APOE, TARDBP, CHMP2B Molecular Diagnostics / PCR
Alzheimer-Demenz APP, MAPT, GRN Alzheimer-Demenz APP, MAPT, GRN Molecular Diagnostics / PCR
Alzheimer-Demenz APP, PSEN1, MAPT, GRN Alzheimer-Demenz APP, PSEN1, MAPT, GRN Molecular Diagnostics / PCR
Alzheimer-Demenz PRNP Alzheimer-Demenz PRNP Molecular Diagnostics / PCR
Amyloid-Polyneuropathie Amyloid-Polyneuropathie Molecular Diagnostics / PCR
Amyotrophe Lateralsklerose SOD1-Gen, Amyotrophe Lateralsklerose Molecular Diagnostics / PCR
Androgenrezeptor-Defekt Androgenrezeptor-Defekt Molecular Diagnostics / PCR
Angelman Syndrom Deletion; Angelman-Syndrom Molecular Diagnostics / PCR
Angelman Syndrom Prader Willi Angelman Syndrom Molecular Diagnostics / PCR
Angelman Syndrom Laborpanel Angelman Syndrom Laborpanel Molecular Diagnostics / PCR
Antithrombin-III-Mangel Antithrombin-III-Mangel Molecular Diagnostics / PCR
Ataxia teleangiectasia Ataxia teleangiectasia Molecular Diagnostics / PCR
Ataxie Spastische Ataxie Molecular Diagnostics / PCR
Atrophie Spinobulbäre Muskelatrophie Molecular Diagnostics / PCR
Autismus Autismus Molecular Diagnostics / PCR
Autismus ARX Autismus ARX Molecular Diagnostics / PCR
Autismus BRAF,CACNA1C, PTPN11, SMC1A, SMC3 Autismus BRAF,CACNA1C, PTPN11, SMC1A, SMC3 Molecular Diagnostics / PCR
BAP1, BRCA2, CDK4, CDKN2A, PTEN, RB1, TP53 BAP1, BRCA2, CDK4, CDKN2A, PTEN, RB1, TP53 Molecular Diagnostics / PCR
BCOR BCOR Molecular Diagnostics / PCR
BMP1, COL1A1, COL1A2, COL5A2, CRTAP, FKBP10, IFITM5, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1 BMP1, COL1A1, COL1A2, COL5A2, CRTAP, FKBP10, IFITM5, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1 Molecular Diagnostics / PCR
BMP6, HAMP, HFE, HJV BMP6, HAMP, HFE, HJV Molecular Diagnostics / PCR
BMP6, HAMP, HFE, HJV / HFE2, SLC40A1, TFR2, FTL, FTH1 BMP6, HAMP, HFE, HJV / HFE2, SLC40A1, TFR2, FTL, FTH1 Molecular Diagnostics / PCR
BRAF (LRG_299t1:c.1799T>A) BRAF (LRG_299t1:c.1799T>A) Molecular Diagnostics / PCR
BRAF, KRAS, MAP2K1, MAP2K2 BRAF, KRAS, MAP2K1, MAP2K2 Molecular Diagnostics / PCR
BRCA1*, BRCA2*, BRIP1, CDH1, PALB2, RAD51C, RAD51D, TP53*, NBN BRCA1*, BRCA2*, BRIP1, CDH1, PALB2, RAD51C, RAD51D, TP53*, NBN Molecular Diagnostics / PCR
BRCA1, BRCA2, CHEK2, PALB2 BRCA1, BRCA2, CHEK2, PALB2 Molecular Diagnostics / PCR
BRCA2, BRIP1, CDH1, CHEK2, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 BRCA2, BRIP1, CDH1, CHEK2, MSH2, MSH6, MUTYH, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 Molecular Diagnostics / PCR
BRCA2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, BRCA1, BRIP1, FANCM, PALB2, RAD51C, SLX4, RAD51 BRCA2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, BRCA1, BRIP1, FANCM, PALB2, RAD51C, SLX4, RAD51 Molecular Diagnostics / PCR
Bainbridge-Ropers Syndrom Bainbridge-Ropers-Syndrom Molecular Diagnostics / PCR
Basalzellkarzinom Basalzellkarzinom Molecular Diagnostics / PCR
Beckwith-Wiedemann Syndrom Beckwith-Wiedemann-Syndrom: Molecular Diagnostics / PCR
Benigne Neugeborenenkrämpfe Benigne Neugeborenenkrämpfe Molecular Diagnostics / PCR
Benigne familiäre Hämaturie, benigne familiäre Molecular Diagnostics / PCR
Bioscience for Illumina Exome Bioscience for Illumina Exome Molecular Diagnostics / PCR
Brugada Syndrom Brugada-Syndrom: CACNA1C, CACNA2D1, CACNB2, PKP2, SCN1B, SCN5A, TRPM4, AKAP9, CALM1, CAV3, KCNE3, KCNJ2, KCNJ5, RYR2, SCN4B, SNTA1, TRDN Molecular Diagnostics / PCR
Brugada Syndrom ANK2, CACNA1C, CACNB2, CASQ2, KCNE3, KCNJ2, SCN1B Brugada Syndrom ANK2, CACNA1C, CACNB2, CASQ2, KCNE3, KCNJ2, SCN1B Molecular Diagnostics / PCR
Brustkrebs familiärer Brustkrebs: ATM Molecular Diagnostics / PCR
Brustkrebs Prädisposition für Brustkrebs Molecular Diagnostics / PCR
Brustkrebs EPCAM Brustkrebs EPCAM Molecular Diagnostics / PCR
C9ORF72, SCA1, SCA2 C9ORF72, SCA1, SCA2 Molecular Diagnostics / PCR
CACNA1A, CACNB4, KCNA1, SLC1A3 CACNA1A, CACNB4, KCNA1, SLC1A3 Molecular Diagnostics / PCR
CACNA1C, CACNB2, CASQ2, KCNE3, SCN1B CACNA1C, CACNB2, CASQ2, KCNE3, SCN1B Molecular Diagnostics / PCR
CACNB4, CASR, EFHC1, GABRA1, GABRD CACNB4, CASR, EFHC1, GABRA1, GABRD Molecular Diagnostics / PCR
CADASIL Syndrom NOTCH3; CADASIL-Syndrom Molecular Diagnostics / PCR
CASR, CFTR, CPA1, CTRC, PNLIP, PRSS1, SPINK1, TRPV6 CASR, CFTR, CPA1, CTRC, PNLIP, PRSS1, SPINK1, TRPV6 Molecular Diagnostics / PCR
CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1, TRPV6 CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1, TRPV6 Molecular Diagnostics / PCR
CAV3, MYBPC3, MYH7 CAV3, MYBPC3, MYH7 Molecular Diagnostics / PCR
CBS, MTHFR CBS, MTHFR Molecular Diagnostics / PCR
CD151, COL4A3, COL4A4, MYH9 CD151, COL4A3, COL4A4, MYH9 Molecular Diagnostics / PCR
CDH1 , CDKN2A , CHEK2 , EPCAM CDH1 , CDKN2A , CHEK2 , EPCAM Molecular Diagnostics / PCR
CDK6, PHC1 CDK6, PHC1 Molecular Diagnostics / PCR
CEBPA (LRG_456t1:c.700-c.1000), CEBPA (LRG_456t1:c.700-c.1000), Molecular Diagnostics / PCR
CHARGE Syndrom CHARGE-Syndrom: CHD7, SEMA3E, TBX1, TBX22 Molecular Diagnostics / PCR
CHARGE Syndrom SEMA3E CHARGE Syndrom SEMA3E Molecular Diagnostics / PCR
CHD7 CHD7 Molecular Diagnostics / PCR
CHEK2, MLH1, MSH2, MSH6, PMS2, PRSS1, PTEN, SMAD4, SPINK1, STK11, TP53, VHL CHEK2, MLH1, MSH2, MSH6, PMS2, PRSS1, PTEN, SMAD4, SPINK1, STK11, TP53, VHL Molecular Diagnostics / PCR
CHRNA2, CHRNA4, CHRNB2, CRH, DEPDC5, ELP4, GRIN2A, KCNT1, LGI1, SCN1A CHRNA2, CHRNA4, CHRNB2, CRH, DEPDC5, ELP4, GRIN2A, KCNT1, LGI1, SCN1A Molecular Diagnostics / PCR
CHRNA2, KCNQ2, KCNQ3, SCN2A, SCN8A CHRNA2, KCNQ2, KCNQ3, SCN2A, SCN8A Molecular Diagnostics / PCR
CHRNA4, CHRNB2, LGI1, SCN1A CHRNA4, CHRNB2, LGI1, SCN1A Molecular Diagnostics / PCR
CMML und Mastozytos CMML und Mastozytos Molecular Diagnostics / PCR
CMML und Mastozytos EZH2, TP53 CMML und Mastozytos EZH2, TP53 Molecular Diagnostics / PCR
CMML und Mastozytose CMML und Mastozytose Molecular Diagnostics / PCR
CMML und Mastozytose BCOR CMML und Mastozytose BCOR Molecular Diagnostics / PCR
CMML und Mastozytose JAK2 CMML und Mastozytose JAK2 Molecular Diagnostics / PCR
CNBP (ZNF9) CNBP (ZNF9) Molecular Diagnostics / PCR
COH1 (VPS13B) COH1 (VPS13B) Molecular Diagnostics / PCR
COL11A1, COL11A2, COL2A1, COL9A1, COL9A2 COL11A1, COL11A2, COL2A1, COL9A1, COL9A2 Molecular Diagnostics / PCR
COL1A2 COL1A2 Molecular Diagnostics / PCR
COL1A2, COL3A1, COL5A1 Ehlers-Danlos-Syndrom COL1A1, COL1A2, COL3A1, COL5A1 Molecular Diagnostics / PCR
COL4A1, COL4A2, CTC1, GLA, HTRA1, NOTCH3, TREX1 COL4A1, COL4A2, CTC1, GLA, HTRA1, NOTCH3, TREX1 Molecular Diagnostics / PCR
COL4A1, COL4A2, CTC1, HTRA1, NOTCH3, TREX1 COL4A1, COL4A2, CTC1, HTRA1, NOTCH3, TREX1 Molecular Diagnostics / PCR
COL5A1, COL5A2, FKBP14, PLOD1, SLC39A13, TNXB COL5A1, COL5A2, FKBP14, PLOD1, SLC39A13, TNXB Molecular Diagnostics / PCR
COL5A2, B3GALT6 Ehlers-Danlos-Syndrom ADAMTS2, COL5A2, B3GALT6 Molecular Diagnostics / PCR
CPA6, DEPDC5, LGI1 CPA6, DEPDC5, LGI1 Molecular Diagnostics / PCR
CREBBP, EP300 CREBBP, EP300 Molecular Diagnostics / PCR
CSF3R (LRG_144t2: Exon CSF3R (LRG_144t2: Exon 14-17), Molecular Diagnostics / PCR
CTNNA3, DSC2, DSG2, DSP, PKP2, RYR2, TGFB3, TMEM43 CTNNA3, DSC2, DSG2, DSP, PKP2, RYR2, TGFB3, TMEM43 Molecular Diagnostics / PCR
CYBB CYBB Molecular Diagnostics / PCR
CYP2C19 (LRG_584t1:c.636G>A, LRG_584t1: c.681G>A) CYP2C19 (LRG_584t1:c.636G>A, LRG_584t1: c.681G>A) Molecular Diagnostics / PCR
CYP2C19-Genotypisierung CYP2C19-Genotypisierung Molecular Diagnostics / PCR
CYP2C9 (LRG_1195t1:c.430C>T, LRG_1195t1: c.1075A>C) CYP2C9 (LRG_1195t1:c.430C>T, LRG_1195t1: c.1075A>C) Molecular Diagnostics / PCR
CYP2C9-Genotypisierung CYP2C9-Genotypisierung Molecular Diagnostics / PCR
CYP7B1 (SPG5A), GBA2 CYP7B1 (SPG5A), GBA2 Molecular Diagnostics / PCR
Cancer Panel Cancer Panel Molecular Diagnostics / PCR
Cancer Panel, Epilepsie Panel Cancer Panel, Epilepsie Panel Molecular Diagnostics / PCR
Cancer Panel, Laborpanel Cancer Panel, Laborpanel Molecular Diagnostics / PCR
Cholestase intrahepatische Cholestase Molecular Diagnostics / PCR
Cholestase Schwangerschaftscholestase Molecular Diagnostics / PCR
Chorea Huntington Repeat-Analyse Chorea Huntington: Molecular Diagnostics / PCR
Chorea Huntington HD; Chorea Huntington Molecular Diagnostics / PCR
Chorea Huntington Laborpanel Chorea Huntington Laborpanel Molecular Diagnostics / PCR
Chronische Granulomatose Chronische Granulomatose Molecular Diagnostics / PCR
Chronische Lymphatische Leukämie,chronische lymphatische Molecular Diagnostics / PCR
Coffin-Lowry Syndrom RPS6KA3; Coffin-Lowry-Syndrom Molecular Diagnostics / PCR
Coffin-Siris Syndrom Coffin-Siris-Syndrom: ARID1B, ARID1A, ARID2, DPF2, SMARCB1, SMARCA4, SMARCE1, SMARCA2, SOX11 Molecular Diagnostics / PCR
Coffin-Siris Syndrom ARID1A Coffin-Siris Syndrom ARID1A Molecular Diagnostics / PCR
Coffin-Siris Syndrom GRIN2B Coffin-Siris Syndrom GRIN2B Molecular Diagnostics / PCR
Coffin-Siris Syndrom SMARCB1, KMT2D (MLL2) Coffin-Siris Syndrom SMARCB1, KMT2D (MLL2) Molecular Diagnostics / PCR
Cohen Syndrom Cohen Syndrom Molecular Diagnostics / PCR
Cornelia de Lange Syndrom Cornelia-de-Lange-Syndrom: NIPBL, DXS423E / SMC1A, SMC3, RAD21, HDAC8, AFF4, SETD5, KMT2A, MAU2, BRD4 Molecular Diagnostics / PCR
Cowden Syndrom PTEN Cowden Syndrom PTEN Molecular Diagnostics / PCR
Cowden Syndrom SDHB, SDHD Cowden Syndrom SDHB, SDHD Molecular Diagnostics / PCR
Cystische Fibrose Cystische Fibrose: Screening der Molecular Diagnostics / PCR
DAO; Histaminintoleranz DAO; Histaminintoleranz Molecular Diagnostics / PCR
DM1; Myotone Dystrophie DM1; Myotone Dystrophie Molecular Diagnostics / PCR
DMPK DMPK Molecular Diagnostics / PCR
DMRT1 DMRT1 Molecular Diagnostics / PCR
DNMT3A, EZH2, IKZF1, KRAS DNMT3A, EZH2, IKZF1, KRAS Molecular Diagnostics / PCR
DOCK6, GRIN2B, KMT2D DOCK6, GRIN2B, KMT2D Molecular Diagnostics / PCR
DOCK8, STAT1, STAT3, TYK2 DOCK8, STAT1, STAT3, TYK2 Molecular Diagnostics / PCR
DPYD-Genotypisierung DPYD-Genotypisierung Molecular Diagnostics / PCR
DRPLA/ATN1, SCA1,2,3,6,7, SCA17/TBP, FRDA, FXN, FMR1 DRPLA/ATN1, SCA1,2,3,6,7, SCA17/TBP, FRDA, FXN, FMR1 Molecular Diagnostics / PCR
Deletion, Rearrangement, Kleinwuchs Deletion, Rearrangement, Kleinwuchs Molecular Diagnostics / PCR
Demenz Demenz Molecular Diagnostics / PCR
Demenz APOE, CHMP2B, PRNP, TARDB1 Demenz APOE, CHMP2B, PRNP, TARDB1 Molecular Diagnostics / PCR
Demenz APOE, CHMP2B, PSEN2, PRNP, TARDB1 Demenz APOE, CHMP2B, PSEN2, PRNP, TARDB1 Molecular Diagnostics / PCR
Demenz APP,GRN, MAPT, PSEN1 Demenz APP,GRN, MAPT, PSEN1 Molecular Diagnostics / PCR
Demenz SCA17, SCA2, C9ORF72, PRNP Demenz SCA17, SCA2, C9ORF72, PRNP Molecular Diagnostics / PCR
DiGeorge Syndrom / DiGeorge DiGeorge Syndrom / DiGeorge Molecular Diagnostics / PCR
Dilatative Kardiomyopathie Dilatative Kardiomyopathie Molecular Diagnostics / PCR
Dyschondrosteose, Typ Dyschondrosteose, Typ Molecular Diagnostics / PCR
Dyschondrosteose, Typ Leri-Weill Dyschondrosteose, Typ Leri-Weill Molecular Diagnostics / PCR
Dysplasie/Kardiomyopathie Dysplasie/Kardiomyopathie Molecular Diagnostics / PCR
Dystonie Primäre Torsionsdystonie: ANO3, CIZ1, COL6A3, GNAL, HPCA, THAP1, TOR1A, TUBB4A Molecular Diagnostics / PCR
Dystonie Parkinson-Dystonie: ATP1A3, DNAJC12, GCH1*, PLA2G6, PRKRA, SLC30A10, SPR, SLC39A14, SLC6A3, TAF1, TH Molecular Diagnostics / PCR
Dystonie ATP1A3, PRKRA Dystonie ATP1A3, PRKRA Molecular Diagnostics / PCR
Dystonie GCH1, SGCE, SLC2A1, THAP1, TOR1A, ANO5 Dystonie GCH1, SGCE, SLC2A1, THAP1, TOR1A, ANO5 Molecular Diagnostics / PCR
Dystonie PRRT2 Dystonie PRRT2 Molecular Diagnostics / PCR
EBM-Panel Laborpanel 4, EBM-Panel Molecular Diagnostics / PCR
EBM-Panel Laborpanel 3, EBM-Panel Molecular Diagnostics / PCR
EBM-Panel, Laborpanel EBM-Panel, Laborpanel Molecular Diagnostics / PCR
EBM-Panel, Laborpanel 3 EBM-Panel, Laborpanel 3 Molecular Diagnostics / PCR
EBM-Panel, Laborpanel 4 EBM-Panel, Laborpanel 4 Molecular Diagnostics / PCR
EBM-Panel, TruSight Hereditary EBM-Panel, TruSight Hereditary Molecular Diagnostics / PCR
EDN3, EDNRB, MITF, PAX3, SOX10 EDN3, EDNRB, MITF, PAX3, SOX10 Molecular Diagnostics / PCR
ELANE, IL1RN, IL36RN, LPIN2, MVK, NLRC4, NLRP12, NLRP3 ELANE, IL1RN, IL36RN, LPIN2, MVK, NLRC4, NLRP12, NLRP3 Molecular Diagnostics / PCR
EMD, DSG2, DSP, FKTN, LMNA, MYBPC3, MYH7, PKP2, RYR2, SCN5A, SGCD EMD, DSG2, DSP, FKTN, LMNA, MYBPC3, MYH7, PKP2, RYR2, SCN5A, SGCD Molecular Diagnostics / PCR
EMD, DSG2, DSP, FKTN, MYBPC3, MYH7, PKP2, RYR2, SCN5A, SGCD EMD, DSG2, DSP, FKTN, MYBPC3, MYH7, PKP2, RYR2, SCN5A, SGCD Molecular Diagnostics / PCR
EMD, LMNA EMD, LMNA Molecular Diagnostics / PCR
EXOSC8, FBXO38, GARS1, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, REEP1, SCO2, SETX, SIGMAR1, SLC5A7, TFG, TRPV4, UBA1 (UBE1), VAPB, VRK1 EXOSC8, FBXO38, GARS1, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, REEP1, SCO2, SETX, SIGMAR1, SLC5A7, TFG, TRPV4, UBA1 (UBE1), VAPB, VRK1 Molecular Diagnostics / PCR
EXT1, EXT2 EXT1, EXT2 Molecular Diagnostics / PCR
EYA1, HNF1B, KAL1, PKD1 EYA1, HNF1B, KAL1, PKD1 Molecular Diagnostics / PCR
EYA1, SIX1, SIX5 EYA1, SIX1, SIX5 Molecular Diagnostics / PCR
EZH2 OMIM*600618, EZH2 Molecular Diagnostics / PCR
EZH2 Makrozephalie EZH2 Molecular Diagnostics / PCR
Ehlers-Danlos-Syndrom Ehlers-Danlos-Syndrom Molecular Diagnostics / PCR
Ehlers-Danlos-Syndrom FLNA, PLOD1, TNXB Ehlers-Danlos-Syndrom FLNA, PLOD1, TNXB Molecular Diagnostics / PCR
Emery-Dreifuss Muskeldystrophie Emery-Dreifuss-Muskeldystrophie Molecular Diagnostics / PCR
Epilepsie PCDH19; bei V. a. Epilepsie Molecular Diagnostics / PCR
Epilepsie Juvenile Myoklonusepilepsie Molecular Diagnostics / PCR
Epilepsie ARX Epilepsie ARX Molecular Diagnostics / PCR
Epilepsie ATP1A2, CACNA1H, CACNB4, CASR, EFHC1, GABRA1, GABRD, GABRG2, IQSEC2 Epilepsie ATP1A2, CACNA1H, CACNB4, CASR, EFHC1, GABRA1, GABRD, GABRG2, IQSEC2 Molecular Diagnostics / PCR
Epilepsie CASK, EPM2A, FLNA, GPR98, GRIN2A, GRIN2B, NHLRC1, NRXN1 Epilepsie CASK, EPM2A, FLNA, GPR98, GRIN2A, GRIN2B, NHLRC1, NRXN1 Molecular Diagnostics / PCR
Epilepsie-Panel, Twist Bioscience Epilepsie-Panel, Twist Bioscience Molecular Diagnostics / PCR
Epilepsiepanel, EBM-Panel Epilepsiepanel, EBM-Panel Molecular Diagnostics / PCR
Episodische Ataxie Episodische Ataxie: CACNA1A, CACNB4, KCNA1,SCN2A, SLC1A3 Molecular Diagnostics / PCR
Episodische Ataxie CACNA1A, KCNA1 Episodische Ataxie CACNA1A, KCNA1 Molecular Diagnostics / PCR
Exon 10), NF1, NPM1 (LRG_458t1: Exon 10), NF1, NPM1 (LRG_458t1: Molecular Diagnostics / PCR
Exon 11), NRAS (LRG_92t1: Exon 11), NRAS (LRG_92t1: Molecular Diagnostics / PCR
Exon 15), CXCR4 (LRG_51t1: Exon 15), CXCR4 (LRG_51t1: Molecular Diagnostics / PCR
Exon 2, 5,6), U2AF2 (LRG_623: Exon 2, 5,6), U2AF2 (LRG_623: Molecular Diagnostics / PCR
Exon 2,3,7,8,9,12,13,15), (LRG_1021t1: Exon Exon 2,3,7,8,9,12,13,15), (LRG_1021t1: Exon Molecular Diagnostics / PCR
Exon 4), IDH2 (LRG_611t1: Exon 4), IDH2 (LRG_611t1: Molecular Diagnostics / PCR
Exons 2 und 3), MPL (LRG_510t1: Exons 2 und 3), MPL (LRG_510t1: Molecular Diagnostics / PCR
Exons 2 und 5), WT1 (LRG Exons 2 und 5), WT1 (LRG Molecular Diagnostics / PCR
Exons 2 und 5), WT1 (LRG_525t1: Exons 2 und 5), WT1 (LRG_525t1: Molecular Diagnostics / PCR
Exons 2-4), NPM1 (LRG_458t1: Exons 2-4), NPM1 (LRG_458t1: Molecular Diagnostics / PCR
F12, SERPING1 (C1NH) F12, SERPING1 (C1NH) Molecular Diagnostics / PCR
F2 (LRG_551t1: c.*97G>A), F2 (LRG_551t1: c.*97G>A), Molecular Diagnostics / PCR
F8, F9 F8, F9 Molecular Diagnostics / PCR
FANCM, PALB2, RAD51C, RAD51 FANCM, PALB2, RAD51C, RAD51 Molecular Diagnostics / PCR
FBN1, TGFBR1, TGFBR2, FBN2 FBN1, TGFBR1, TGFBR2, FBN2 Molecular Diagnostics / PCR
FG Syndrom FG Syndrom Molecular Diagnostics / PCR
FGFR-assoziierte Kraniosynostosen FGFR-assoziierte Kraniosynostosen Molecular Diagnostics / PCR
FGFR1, FGFR2, FGFR3, MSX2, TWIST1 FGFR1, FGFR2, FGFR3, MSX2, TWIST1 Molecular Diagnostics / PCR
FGFR2, FGFR3, FGF10 FGFR2, FGFR3, FGF10 Molecular Diagnostics / PCR
FGFR3, HESX1, POU1F1, SHOX FGFR3, HESX1, POU1F1, SHOX Molecular Diagnostics / PCR
FIGLA, FOXL2, FSHR, GDF9, LHCGR, NOBOX, NR5A1, STAG3, SOHLH1, SOHLH2 FIGLA, FOXL2, FSHR, GDF9, LHCGR, NOBOX, NR5A1, STAG3, SOHLH1, SOHLH2 Molecular Diagnostics / PCR
FOXI1, KCNJ10, SLC26A4 FOXI1, KCNJ10, SLC26A4 Molecular Diagnostics / PCR
FOXL2 (LRG_1295t1: Exon1, anteilig), STAG3 (NM012447.4, Exons 30-32) FOXL2 (LRG_1295t1: Exon1, anteilig), STAG3 (NM012447.4, Exons 30-32) Molecular Diagnostics / PCR
FUS, KIF5A, SPG11, MATR3, SOD1, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VCP FUS, KIF5A, SPG11, MATR3, SOD1, SQSTM1, TARDBP, TBK1, UBQLN2, VAPB, VCP Molecular Diagnostics / PCR
FUS, SOD1, TARDBP, VAPB FUS, SOD1, TARDBP, VAPB Molecular Diagnostics / PCR
FXN FXN Molecular Diagnostics / PCR
Familiäre Adenomatöse Familiäre Adenomatöse Molecular Diagnostics / PCR
Fanconi-Anämie Fanconi-Anämie Molecular Diagnostics / PCR
Fanconianämie BRCA1, BRCA2, BRIP1,PALB2, RAD51C Fanconianämie BRCA1, BRCA2, BRIP1,PALB2, RAD51C Molecular Diagnostics / PCR
Fanconianämie BRCA1, BRIP1,PALB2, RAD51C Fanconianämie BRCA1, BRIP1,PALB2, RAD51C Molecular Diagnostics / PCR
Favismus Favismus Molecular Diagnostics / PCR
Fettstoffwechselstörung Fettstoffwechselstörung Molecular Diagnostics / PCR
Fettstoffwechselstörung APOE, LDLRAP1, PCSK9, APOB Fettstoffwechselstörung APOE, LDLRAP1, PCSK9, APOB Molecular Diagnostics / PCR
Fettstoffwechselstörung LDLR Fettstoffwechselstörung LDLR Molecular Diagnostics / PCR
Fiebersyndrome Fiebersyndrome Molecular Diagnostics / PCR
Fiebersyndrome MEFV Fiebersyndrome MEFV Molecular Diagnostics / PCR
Fiebersyndrome NLRP3 Fiebersyndrome NLRP3 Molecular Diagnostics / PCR
Fiebersyndrome NLRP3 (CIAS1), MVK, TNFRSF1A Fiebersyndrome NLRP3 (CIAS1), MVK, TNFRSF1A Molecular Diagnostics / PCR
Fragiles X Syndrom: FMR1 Fragiles X-Syndrom: FMR1 Molecular Diagnostics / PCR
Fruktose-Intoleranz hereditäre Fruktose Intoleranz: Molecular Diagnostics / PCR
G6PD G6PD Molecular Diagnostics / PCR
GAA GAA Molecular Diagnostics / PCR
GBA GBA Molecular Diagnostics / PCR
GBA-Gen, Morbus Gaucher GBA-Gen, Morbus Gaucher Molecular Diagnostics / PCR
GFAP, GFER, GFM1, GLDC, GMPPB, GNAO1, GOSR2, GPHN, GPR98 (ADGRV1) GRIA3 GFAP, GFER, GFM1, GLDC, GMPPB, GNAO1, GOSR2, GPHN, GPR98 (ADGRV1) GRIA3 Molecular Diagnostics / PCR
GHRH, HESX1, IGF1, IGF1R, IGFALS, LHX4, POU1F1, PROP1, SHOX GHRH, HESX1, IGF1, IGF1R, IGFALS, LHX4, POU1F1, PROP1, SHOX Molecular Diagnostics / PCR
GLA GLA Molecular Diagnostics / PCR
GPR98, GRIN2A, GRIN2B, NRXN1 GPR98, GRIN2A, GRIN2B, NRXN1 Molecular Diagnostics / PCR
GRID2 (SCAR18), HSPD1 GRID2 (SCAR18), HSPD1 Molecular Diagnostics / PCR
GRIN2A GRIN2A Molecular Diagnostics / PCR
Gastrointestinaler Stromatumor Gastrointestinaler Stromatumor Molecular Diagnostics / PCR
Gerinnungsstörung Gerinnungsstörung Molecular Diagnostics / PCR
Gerinnungsstörung ACE Gerinnungsstörung ACE Molecular Diagnostics / PCR
Gerinnungsstörung ACE (rs1799752) Gerinnungsstörung ACE (rs1799752) Molecular Diagnostics / PCR
Gerinnungsstörung F5 Gerinnungsstörung F5 Molecular Diagnostics / PCR
Gewebeproben Gewebeproben Molecular Diagnostics / PCR
Gliedergürtelmuskeldystrophie Gliedergürtelmuskeldystrophie Molecular Diagnostics / PCR
Glukosetransporter-Defekt Glukosetransporter-Defekt Molecular Diagnostics / PCR
Glut1-Defizienz-Syndrom Glut1-Defizienz-Syndrom Molecular Diagnostics / PCR
Gorlin Syndrom Gorlin Syndrom Molecular Diagnostics / PCR
Greig-Zephalopolysyndaktylie Greig-Zephalopolysyndaktylie Molecular Diagnostics / PCR
HAMP; erbl. Hämochromatose HAMP; erbl. Hämochromatose Molecular Diagnostics / PCR
HESX1, LHX3, PROP1, POU1F1 HESX1, LHX3, PROP1, POU1F1 Molecular Diagnostics / PCR
HNMT (rs11558538) HNMT (rs11558538) Molecular Diagnostics / PCR
HSD3B2 HSD3B2 Molecular Diagnostics / PCR
HSPB1, HSPB8, GARS Spinale Muskelatrophie REEP1, HSPB1, HSPB8, GARS Molecular Diagnostics / PCR
HTT, JPH3, TBP, ATN1, SCA1, SCA3, SCA7, PRNP HTT, JPH3, TBP, ATN1, SCA1, SCA3, SCA7, PRNP Molecular Diagnostics / PCR
Hereditary Cancer Panel Hereditary Cancer Panel Molecular Diagnostics / PCR
Hereditary Cancer Panel, Panel Hereditary Cancer Panel, Panel Molecular Diagnostics / PCR
Hereditäre Motorische Neuropathie Hereditäre Motorische Neuropathie Molecular Diagnostics / PCR
Hereditäre Pankreatitis SPINK1; hereditäre Pankreatitis Molecular Diagnostics / PCR
Hereditäre Pankreatitis PRSS1; hereditäre Pankreatitis Molecular Diagnostics / PCR
Hereditäre Pankreatitis CASR Hereditäre Pankreatitis CASR Molecular Diagnostics / PCR
Hereditäre Pankreatitis CFTR, PRSS1, SPINK1 Hereditäre Pankreatitis CFTR, PRSS1, SPINK1 Molecular Diagnostics / PCR
Hereditäre Pankreatitis CTRC Hereditäre Pankreatitis CTRC Molecular Diagnostics / PCR
Hereditäre Schwannomatose Hereditäre Schwannomatose Molecular Diagnostics / PCR
Hereditäre Tumorerkrankungen Hereditäre Tumorerkrankungen Molecular Diagnostics / PCR
Hereditäre motorisch sensorische Hereditäre motorisch-sensorische Molecular Diagnostics / PCR
Hereditäre sensorische Neuropathie Hereditäre sensorische Neuropathie Molecular Diagnostics / PCR
Hereditäres Angioödem Hereditäres Angioödem Molecular Diagnostics / PCR
Hereditäres Pankreaskarzinom Hereditäres Pankreaskarzinom Molecular Diagnostics / PCR
Hereditäres Prostatakarzinom Hereditäres Prostatakarzinom Molecular Diagnostics / PCR
Hereditäres angioneurotisches Hereditäres angioneurotisches Molecular Diagnostics / PCR
Hereditäres nicht polypöses Hereditäres nicht-polypöses Molecular Diagnostics / PCR
Holoprosencephalie Holoprosencephalie Molecular Diagnostics / PCR
Holoprosencephalie FBXW11 Holoprosencephalie FBXW11 Molecular Diagnostics / PCR
Homocysteinämie/ Homocystinurie Homocysteinämie/ Homocystinurie Molecular Diagnostics / PCR
Hyper-IgE Syndrom STAT3-Gen, Hyper-IgE-Syndrom Molecular Diagnostics / PCR
Hypertrophe Kardiomyopathie Hypertrophe Kardiomyopathie Molecular Diagnostics / PCR
Hypophysen-Hormondefizienz Hypophysen-Hormondefizienz Molecular Diagnostics / PCR
Hämochromatose HAMP, HFE2, SLC40A1, TFR2 Hämochromatose HAMP, HFE2, SLC40A1, TFR2 Molecular Diagnostics / PCR
Hämophilie F8 Inversion Hämophilie F8 Inversion Molecular Diagnostics / PCR
Hämophilie F8 Inversion 1, Inversion 22 Hämophilie F8 Inversion 1, Inversion 22 Molecular Diagnostics / PCR
IGFALS, LHX4, POU1F1, SHOX IGFALS, LHX4, POU1F1, SHOX Molecular Diagnostics / PCR
IL10, IL10RA, IL10RB, NLRP7, SH3BP2, SLC29A3, TNFRSF11A IL10, IL10RA, IL10RB, NLRP7, SH3BP2, SLC29A3, TNFRSF11A Molecular Diagnostics / PCR
IL1RAPL1, IQSEC2, KDM5C, PQBP1 IL1RAPL1, IQSEC2, KDM5C, PQBP1 Molecular Diagnostics / PCR
IL1RAPL1, OPHN1, PQBP1, TSPAN7 IL1RAPL1, OPHN1, PQBP1, TSPAN7 Molecular Diagnostics / PCR
Ichthyose, X-gebunden Ichthyose, X-gebunden Molecular Diagnostics / PCR
Illumina Exome 2.5 Illumina Exome 2.5 Molecular Diagnostics / PCR
Illumina Exome 2.5, EBM-Panel Illumina Exome 2.5, EBM-Panel Molecular Diagnostics / PCR
Illumina Exome 2.5, Laborpanel Illumina Exome 2.5, Laborpanel Molecular Diagnostics / PCR
Illumina Exome 2.5, Labropanel Illumina Exome 2.5, Labropanel Molecular Diagnostics / PCR
Illumina Exome 2.5, TruSight Illumina Exome 2.5,TruSight Molecular Diagnostics / PCR
Infantile Epilepsie mit ment. Infantile Epilepsie mit ment. Molecular Diagnostics / PCR
Infertilität/AZF Infertilität/AZF Molecular Diagnostics / PCR
Infertilität/AZF SRY Infertilität/AZF SRY Molecular Diagnostics / PCR
Intrahepatische progressive Intrahepatische progressive Molecular Diagnostics / PCR
JAG1, NOTCH2 JAG1, NOTCH2 Molecular Diagnostics / PCR
JUP, TGFB3 JUP, TGFB3 Molecular Diagnostics / PCR
Juvenile Polyposis Juvenile Polyposis Molecular Diagnostics / PCR
KAL1, FGFR1, PROKR2, PROK2, CHD7, FGF8 KAL1, FGFR1, PROKR2, PROK2, CHD7, FGF8 Molecular Diagnostics / PCR
KAL1/ANOS1, NSDHL, PEX5, RMRP, SHOX, SLC26A2, WNT5A KAL1/ANOS1, NSDHL, PEX5, RMRP, SHOX, SLC26A2, WNT5A Molecular Diagnostics / PCR
KCNA1, SCN2A, FXN Spinocerebelläre Ataxie CACNB4, KCNA1, SCN2A, FXN Molecular Diagnostics / PCR
KCNE1, KCNE2, KCNH2, KCNQ1, PKP2, RYR2, SCN5A KCNE1, KCNE2, KCNH2, KCNQ1, PKP2, RYR2, SCN5A Molecular Diagnostics / PCR
KCNE2, KCNH2, KCNQ1, PKP2, SCN5A KCNE2, KCNH2, KCNQ1, PKP2, SCN5A Molecular Diagnostics / PCR
KCNE2, KCNH2, KCNQ1, SCN5A KCNE2, KCNH2, KCNQ1, SCN5A Molecular Diagnostics / PCR
KCNJ10, MBD5, PRRT2, SCN2A KCNJ10, MBD5, PRRT2, SCN2A Molecular Diagnostics / PCR
KCNJ5, KCNQ1, PKP2, RYR2, SNTA1, TRDN KCNJ5, KCNQ1, PKP2, RYR2, SNTA1, TRDN Molecular Diagnostics / PCR
KCNQ1, PKP2, RYR2, SCN1B, SCN5A, SNTA1, TRDN, TRPM4 KCNQ1, PKP2, RYR2, SCN1B, SCN5A, SNTA1, TRDN, TRPM4 Molecular Diagnostics / PCR
KCNQ3 Neugeborenenkrämpfe KCNQ2, KCNQ3 Molecular Diagnostics / PCR
KMT2D (MLL2), KDM6A KMT2D (MLL2), KDM6A Molecular Diagnostics / PCR
KRAS; Noonan-Syndrom KRAS; Noonan-Syndrom Molecular Diagnostics / PCR
Kabuki Syndrom Kabuki-Syndrom: KMT2D, KDM6A, RAP1A, RAP1B Molecular Diagnostics / PCR
Kabuki Syndrom KMT2D Kabuki Syndrom KMT2D Molecular Diagnostics / PCR
Kabuki Syndrom KMT2D (MLL2) Kabuki Syndrom KMT2D (MLL2) Molecular Diagnostics / PCR
Kagami-Ogata Syndrom Kagami-Ogata-Syndrom Molecular Diagnostics / PCR
Kallmann Syndrom FGF8 Kallmann Syndrom FGF8 Molecular Diagnostics / PCR
Kallmann Syndrom KAL1, FGFR1, PROK2, CHD7, PROKR2 Kallmann Syndrom KAL1, FGFR1, PROK2, CHD7, PROKR2 Molecular Diagnostics / PCR
Kallmann Syndrom KAL1, PROK2, CHD7, PROKR2 Kallmann Syndrom KAL1, PROK2, CHD7, PROKR2 Molecular Diagnostics / PCR
Kardiofasziokutanes Syndrom Kardiofasziokutanes Syndrom Molecular Diagnostics / PCR
Kardiomyopathie DSG2, DSP, RYR2 Kardiomyopathie DSG2, DSP, RYR2 Molecular Diagnostics / PCR
Kardiomyopathie DSG2, RYR2 Kardiomyopathie DSG2, RYR2 Molecular Diagnostics / PCR
Karzinom Lungenkarzinom: EGF-Rezeptor Molecular Diagnostics / PCR
Karzinom EBM-Panel, TruSight Karzinom EBM-Panel, TruSight Molecular Diagnostics / PCR
Karzinom EPCAM Karzinom EPCAM Molecular Diagnostics / PCR
Karzinom MLH1, MSH2, MSH6, PMS2 Karzinom MLH1, MSH2, MSH6, PMS2 Molecular Diagnostics / PCR
Karzinom MLH1, MSH2, PMS2 Karzinom MLH1, MSH2, PMS2 Molecular Diagnostics / PCR
Katecholaminerge Polymorphe Katecholaminerge polymorphe Molecular Diagnostics / PCR
Kollagenopathie Typ II, Stickler Kollagenopathie Typ II, Stickler Molecular Diagnostics / PCR
Kolorektale Karzinome Kolorektale Karzinome Molecular Diagnostics / PCR
Kolorektale Karzinome APC, BMPR1A, PTEN, MLH1, MSH2, MSH6, PMS2, MUTYH, SAMD4, STK11, TP53 Kolorektale Karzinome APC, BMPR1A, PTEN, MLH1, MSH2, MSH6, PMS2, MUTYH, SAMD4, STK11, TP53 Molecular Diagnostics / PCR
Kolorektale Karzinome EPCAM Kolorektale Karzinome EPCAM Molecular Diagnostics / PCR
Kontaminationssausschluß Kontaminationssausschluß Molecular Diagnostics / PCR
Kraniosynostosen FGFR1, FGFR3, MSX2, TWIST1 Kraniosynostosen FGFR1, FGFR3, MSX2, TWIST1 Molecular Diagnostics / PCR
Kreatin-Defizienz Syndrom Kreatin-Defizienz Syndrom Molecular Diagnostics / PCR
Krämpfe-Skoliose-Makrozephalie Krämpfe-Skoliose-Makrozephalie Molecular Diagnostics / PCR
L1CAM L1CAM Molecular Diagnostics / PCR
L1CAM (SPG1), NIPA1 (SPG6), (SPG2), PNPLA6 (SPG39), REEP1 L1CAM (SPG1), NIPA1 (SPG6), (SPG2), PNPLA6 (SPG39), REEP1 Molecular Diagnostics / PCR
LADD-Syndrom LADD-Syndrom Molecular Diagnostics / PCR
LADD-Syndrom FGFR2, FGFR3 LADD-Syndrom FGFR2, FGFR3 Molecular Diagnostics / PCR
LARGE1, POMT2 LARGE1, POMT2 Molecular Diagnostics / PCR
LCT Laktose-Intoleranz LCT Molecular Diagnostics / PCR
LDLRAP1, LIPC, LIPG, LMF1, MTTP, PCSK9 LDLRAP1, LIPC, LIPG, LMF1, MTTP, PCSK9 Molecular Diagnostics / PCR
LHCGR, NOBOX, NR5A1, SOHLH1, SOHLH2 LHCGR, NOBOX, NR5A1, SOHLH1, SOHLH2 Molecular Diagnostics / PCR
LMNA LMNA Molecular Diagnostics / PCR
LMNA, MYOT, SGCA, SGCB, SGCG, TCAP, TRIM32 LMNA, MYOT, SGCA, SGCB, SGCG, TCAP, TRIM32 Molecular Diagnostics / PCR
LMNB1 LMNB1 Molecular Diagnostics / PCR
LZTR1, NF2, SMARCB1 LZTR1, NF2, SMARCB1 Molecular Diagnostics / PCR
Laborpanel 1 Laborpanel 1 Molecular Diagnostics / PCR
Laborpanel 1, EBM-Panel Laborpanel 1, EBM-Panel Molecular Diagnostics / PCR
Laborpanel 1, Epilepsie-Panel Laborpanel 1, Epilepsie-Panel Molecular Diagnostics / PCR
Laborpanel 1, Labropanel Laborpanel 1, Labropanel Molecular Diagnostics / PCR
Laborpanel 1, TruSight Hereditary Laborpanel 1, TruSight Hereditary Molecular Diagnostics / PCR
Laborpanel 1, Twist Bioscience Laborpanel 1, Twist Bioscience Molecular Diagnostics / PCR
Laborpanel 1; Twist Bioscience Laborpanel 1; Twist Bioscience Molecular Diagnostics / PCR
Laborpanel 2 Laborpanel 2 Molecular Diagnostics / PCR
Laborpanel 2 , Twist Bioscience Laborpanel 2, Twist Bioscience Molecular Diagnostics / PCR
Laborpanel 2, Epilepsie-Panel Laborpanel 2, Epilepsiepanel Molecular Diagnostics / PCR
Laborpanel 2, Laborpanel Laborpanel 2, Laborpanel Molecular Diagnostics / PCR
Laborpanel 2, TruSight One Laborpanel 2, TruSight One Molecular Diagnostics / PCR
Laborpanel 3 Laborpanel 3 Molecular Diagnostics / PCR
Laborpanel 3, TruSight Hereditary Laborpanel 3, TruSight Hereditary Molecular Diagnostics / PCR
Laborpanel 3, Twist Bioscience Laborpanel 3, Twist Bioscience Molecular Diagnostics / PCR
Laborpanel 4 Laborpanel 4 Molecular Diagnostics / PCR
Laborpanel 4, EBM-Panel, Laborpanel 1 Laborpanel 4, EBM-Panel, Laborpanel 1 Molecular Diagnostics / PCR
Laborpanel 4, Laborpanel Laborpanel 4, Laborpanel Molecular Diagnostics / PCR
Laborpanel 4, TruSight Hereditary Laborpanel 4, TruSight Hereditary Molecular Diagnostics / PCR
Laborpanel 5 Laborpanel 5 Molecular Diagnostics / PCR
Laborpanel 5, EBM-Panel Laborpanel 5, EBM-Panel Molecular Diagnostics / PCR
Laborpanel 5, Laborpanel Laborpanel 5, Laborpanel Molecular Diagnostics / PCR
Laborpanel 5, TruSight Hereditary Laborpanel 5, TruSight Hereditary Molecular Diagnostics / PCR
Laborpanel 5, Twist Bioscience Laborpanel 5, Twist Bioscience Molecular Diagnostics / PCR
Laborpanel 5,TruSight One Laborpanel 5,TruSight One Molecular Diagnostics / PCR
Laktose Intoleranz: LCT-Gen Laktose Intoleranz: LCT-Gen Molecular Diagnostics / PCR
Langer-Giedion Syndrom Langer-Giedion Syndrom Molecular Diagnostics / PCR
Laterale Temporallappenepilepsie Laterale Temporallappenepilepsie Molecular Diagnostics / PCR
Legius Syndrom SPRED1; V. a. Legius-Syndrom Molecular Diagnostics / PCR
Li Fraumeni Syndrom Li-Fraumeni-Syndrom Molecular Diagnostics / PCR
Lissenzephalie Lissenzephalie Molecular Diagnostics / PCR
Lissenzephalie ARX Lissenzephalie ARX Molecular Diagnostics / PCR
Lissenzephalie DCX, FKRP, GLI3, L1CAM, PAFAH1B Lissenzephalie DCX, FKRP, GLI3, L1CAM, PAFAH1B Molecular Diagnostics / PCR
Lissenzephalie FLNA, POMGNT1, POMT1, POMT2 Lissenzephalie FLNA, POMGNT1, POMT1, POMT2 Molecular Diagnostics / PCR
Lissenzephalie TUBA1A Lissenzephalie TUBA1A Molecular Diagnostics / PCR
Loeys Dietz Syndrom Marfan-, Loeys-Dietz-Syndrom Molecular Diagnostics / PCR
Long-QT Syndrom / Short Long-QT Syndrom / Short Molecular Diagnostics / PCR
Lymphatische Neoplasien Lymphatische Neoplasien: Molecular Diagnostics / PCR
MAP2K1, MAP2K2, NRAS, PIK3R2, PPP1CB, RASA1, RASA2, RRAS, SHOC2, SOS2, SPRED1 MAP2K1, MAP2K2, NRAS, PIK3R2, PPP1CB, RASA1, RASA2, RRAS, SHOC2, SOS2, SPRED1 Molecular Diagnostics / PCR
MECP2, CDKL5, FOXG1 MECP2, CDKL5, FOXG1 Molecular Diagnostics / PCR
MED12 MED12 Molecular Diagnostics / PCR
MED12, MLC1, NFIX, NSD1, PHF6, PIGA, PIGN, PIGT, PIK3CA, PTCH1, PTEN, RAB39B, RIN2, RNF135, SETD2, SNX14, STRADA, SYN1, TBC1D7, SHANK3 MED12, MLC1, NFIX, NSD1, PHF6, PIGA, PIGN, PIGT, PIK3CA, PTCH1, PTEN, RAB39B, RIN2, RNF135, SETD2, SNX14, STRADA, SYN1, TBC1D7, SHANK3 Molecular Diagnostics / PCR
MEN1, SMARCB1 MEN1, SMARCB1 Molecular Diagnostics / PCR
MID1 MID1 Molecular Diagnostics / PCR
MODY PDX1, NEUROD1, KLF11, PAX4, INS MODY PDX1, NEUROD1, KLF11, PAX4, INS Molecular Diagnostics / PCR
MODY PDX1, NEUROD1, PAX4, INS MODY PDX1, NEUROD1, PAX4, INS Molecular Diagnostics / PCR
MSH2, MSH6, MUTHY, PMS2, SMAD4, STK11, TP53 MSH2, MSH6, MUTHY, PMS2, SMAD4, STK11, TP53 Molecular Diagnostics / PCR
MSH2, MSH6, MUTYH, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 MSH2, MSH6, MUTYH, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 Molecular Diagnostics / PCR
MSH2, MSH6, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 MSH2, MSH6, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 Molecular Diagnostics / PCR
MT-TL1, MT-ND1, MT-ND2 MT-TL1, MT-ND1, MT-ND2 Molecular Diagnostics / PCR
Mabry Syndrom Mabry Syndrom Molecular Diagnostics / PCR
Magenis-Syndrom Smith-Magenis-Syndrom Molecular Diagnostics / PCR
Makrozephalie GLI3, GPC3, NFIX, NSD1, PTCH1, PTEN Makrozephalie GLI3, GPC3, NFIX, NSD1, PTCH1, PTEN Molecular Diagnostics / PCR
Makrozephalie HUWE1 Makrozephalie HUWE1 Molecular Diagnostics / PCR
Malignes Melanom Malignes Melanom: CDKN2A, BAP1, BRCA2, POT1 Molecular Diagnostics / PCR
Malignes Melanom BRCA2, CDKN2A, MITF, PTEN, TP53 Malignes Melanom BRCA2, CDKN2A, MITF, PTEN, TP53 Molecular Diagnostics / PCR
Marfan Syndrom Marfan-Syndrom: FBN1, TGFBR1, TGFBR2, ACTA2, COL3A1, MYH11, MYLK, SMAD3, TGFB2 Molecular Diagnostics / PCR
Marfan Syndrom FBN1, TGFBR1, TGFBR2 Marfan Syndrom FBN1, TGFBR1, TGFBR2 Molecular Diagnostics / PCR
Marfan Syndrom FBN1, TGFBR2 Marfan Syndrom FBN1, TGFBR2 Molecular Diagnostics / PCR
Masa Syndrom Masa Syndrom Molecular Diagnostics / PCR
MeCP2; Rett-Syndrom MeCP2; Rett-Syndrom Molecular Diagnostics / PCR
Mentale Retardierung Mentale Retardierung Molecular Diagnostics / PCR
Mentale Retardierung IQSEC2 Mentale Retardierung IQSEC2 Molecular Diagnostics / PCR
Migräne Migräne Molecular Diagnostics / PCR
Migräne ATP1A2, PRRT2 Migräne ATP1A2, PRRT2 Molecular Diagnostics / PCR
Migräne CACNA1A, POLG, SLC2A1 Migräne CACNA1A, POLG, SLC2A1 Molecular Diagnostics / PCR
Mikroangiopathien Mikroangiopathien Molecular Diagnostics / PCR
Mikroangiopathien NOTCH3 Mikroangiopathien NOTCH3 Molecular Diagnostics / PCR
Mitochondriale Defekte Mitochondriale Defekte Molecular Diagnostics / PCR
Mitochondriale Defekte Laborpanel Mitochondriale Defekte Laborpanel Molecular Diagnostics / PCR
Morbus Hirschsprung Morbus Hirschsprung Molecular Diagnostics / PCR
Morbus Meulengracht Morbus Meulengracht: UGT1A1 Molecular Diagnostics / PCR
Morbus Meulengracht UGT1A1 Morbus Meulengracht UGT1A1 Molecular Diagnostics / PCR
Mowat-Wilson Mowat-Wilson Molecular Diagnostics / PCR
Multiple Exostose Multiple Exostose Molecular Diagnostics / PCR
Muskeldystrophie Typ Duchenne Muskeldystrophie Typ Duchenne Molecular Diagnostics / PCR
Myelodysplastisches Syndrom Myelodysplastisches Syndrom Molecular Diagnostics / PCR
Myeloproliferative Erkrankung Myeloproliferative Erkrankung Molecular Diagnostics / PCR
Myoadenylat-Desaminase Myoadenylat-Desaminase Molecular Diagnostics / PCR
Myotone Dystrophie Typ Myotone Dystrophie Typ Molecular Diagnostics / PCR
ND4L, MT-TH, MT-TS2, MT-TL2, TE, MT-CYB, MT-TT, MT-TP ND4L, MT-TH, MT-TS2, MT-TL2, TE, MT-CYB, MT-TT, MT-TP Molecular Diagnostics / PCR
NDE1, NUDC, PAFAH1B1, PIK3R2, POMGNT1, POMT1, POMT2, RELN, TK2, TUBA1A, TUBB2B, VLDLR, WDR62 NDE1, NUDC, PAFAH1B1, PIK3R2, POMGNT1, POMT1, POMT2, RELN, TK2, TUBA1A, TUBB2B, VLDLR, WDR62 Molecular Diagnostics / PCR
NEUROD1, KLF11, CEL, PAX4, BLK, ABCC8, KCNJ11, APPL1 NEUROD1, KLF11, CEL, PAX4, BLK, ABCC8, KCNJ11, APPL1 Molecular Diagnostics / PCR
NF1 NF1 Molecular Diagnostics / PCR
NF1, SPRED1 NF1, SPRED1 Molecular Diagnostics / PCR
NLGN4X, NRXN1, OPHN1, SHANK2 NLGN4X, NRXN1, OPHN1, SHANK2 Molecular Diagnostics / PCR
NOTCH3 NOTCH3 Molecular Diagnostics / PCR
NPHP1, SACS, ATP1A3 Spinocerebelläre Ataxie APTX, NPHP1, SACS, ATP1A3 Molecular Diagnostics / PCR
NSD1, NFIX, DNMT3A, EZH2, GPC3 NSD1, NFIX, DNMT3A, EZH2, GPC3 Molecular Diagnostics / PCR
NSD1; Sotos-Syndrom NSD1; Sotos-Syndrom Molecular Diagnostics / PCR
Neugeborenenkrämpfe PRRT2, SCN2A Neugeborenenkrämpfe PRRT2, SCN2A Molecular Diagnostics / PCR
Neurofibromatose Typ 1 Neurofibromatose Typ 1 Molecular Diagnostics / PCR
Neurofibromatose Typ 1 17q11.2 Neurofibromatose Typ 1 17q11.2 Molecular Diagnostics / PCR
Neuropathie 17p11.2-12, HSPB1, HSPB8, REEP1, SPTLC1 Neuropathie 17p11.2-12, HSPB1, HSPB8, REEP1, SPTLC1 Molecular Diagnostics / PCR
Neuropathie 17p11.2-12, RAB7A, HSPB1, HSPB8, REEP1, SPTLC1 Neuropathie 17p11.2-12, RAB7A, HSPB1, HSPB8, REEP1, SPTLC1 Molecular Diagnostics / PCR
Neuropathie CAV3, CX32, LMNA, MFN2, MYH7, MYOT, PMP22, SETX Neuropathie CAV3, CX32, LMNA, MFN2, MYH7, MYOT, PMP22, SETX Molecular Diagnostics / PCR
Nijmegen-Breakage Syndrom Nijmegen-Breakage Syndrom Molecular Diagnostics / PCR
Noonan Syndrom PTPN11-Gen, Noonan-Syndrom Molecular Diagnostics / PCR
Nächtliche Frontallappenepilepsie Nächtliche Frontallappenepilepsie Molecular Diagnostics / PCR
OMIM*600993, STK11 OMIM*600993, STK11 Molecular Diagnostics / PCR
OMIM*612839, TP53 OMIM*612839, TP53 Molecular Diagnostics / PCR
Ohtahara Syndrom Ohtahara Syndrom Molecular Diagnostics / PCR
Ohtahara Syndrom ARX Ohtahara Syndrom ARX Molecular Diagnostics / PCR
One expanded Panel, Laborpanel One expanded Panel, Laborpanel Molecular Diagnostics / PCR
Opitz Syndrom, X-gebunden Opitz Syndrom, X-gebunden Molecular Diagnostics / PCR
Opitz-Syndrom: Smith-Lemli-Opitz-Syndrom Molecular Diagnostics / PCR
Osteogenesis imperfecta Osteogenesis imperfecta Molecular Diagnostics / PCR
Osteogenesis imperfecta COL1A1, COL1A2 Osteogenesis imperfecta COL1A1, COL1A2 Molecular Diagnostics / PCR
Osteogenesis imperfecta COL5A2, TMEM38B, WNT1 Osteogenesis imperfecta COL5A2, TMEM38B, WNT1 Molecular Diagnostics / PCR
PAH, QDPR PAH, QDPR Molecular Diagnostics / PCR
PARK2 (PRKN), PARK7 (DJ1), (PARK6), SLC6A3, SNCA (PARK1), VPS35 PARK2 (PRKN), PARK7 (DJ1), (PARK6), SLC6A3, SNCA (PARK1), VPS35 Molecular Diagnostics / PCR
PCDH15, PDZD7, POLR1C, POU3F4, PRPS1, SIX1, SLC19A2, SLC26A4, STRC, TCOF1, TECTA, TMC1, TMPRSS3, TPRN, USH1C, USH1G, USH2A, WFS1 PCDH15, PDZD7, POLR1C, POU3F4, PRPS1, SIX1, SLC19A2, SLC26A4, STRC, TCOF1, TECTA, TMC1, TMPRSS3, TPRN, USH1C, USH1G, USH2A, WFS1 Molecular Diagnostics / PCR
PCDH19 PCDH19 Molecular Diagnostics / PCR
PCSK1, POMC, PPARG, SDC3, UCP1, UCP3 PCSK1, POMC, PPARG, SDC3, UCP1, UCP3 Molecular Diagnostics / PCR
PHC1, PNKP, STIL, WDR62, ZNF335 PHC1, PNKP, STIL, WDR62, ZNF335 Molecular Diagnostics / PCR
PHF6, PTEN, RUNX1, SF3B1 PHF6, PTEN, RUNX1, SF3B1 Molecular Diagnostics / PCR
PIGV PIGV Molecular Diagnostics / PCR
PIK3R2, PPP1CB, RASA1, RRAS, SHOC2, SOS2, SPRED1 PIK3R2, PPP1CB, RASA1, RRAS, SHOC2, SOS2, SPRED1 Molecular Diagnostics / PCR
PKD1, PKD2, PKHD1, SALL1, SIX5, UMOD PKD1, PKD2, PKHD1, SALL1, SIX5, UMOD Molecular Diagnostics / PCR
PLOD2, PPIB, SERPINF1, SP7, TMEM38B, WNT1 PLOD2, PPIB, SERPINF1, SP7, TMEM38B, WNT1 Molecular Diagnostics / PCR
PLP1 PLP1 Molecular Diagnostics / PCR
POLG POLG Molecular Diagnostics / PCR
POLG, SETX, SPG7, FXN Spinocerebelläre Ataxie CACN1A, POLG, SETX, SPG7, FXN Molecular Diagnostics / PCR
POLG-assoziierte Epilepsie POLG-assoziierte Epilepsie Molecular Diagnostics / PCR
POLR1C, POLR1D, TCOF1 POLR1C, POLR1D, TCOF1 Molecular Diagnostics / PCR
PPT1, PRICKLE1, PRICKLE2, SGCE, SLC6A1, TBC1D24, TPP1 PPT1, PRICKLE1, PRICKLE2, SGCE, SLC6A1, TBC1D24, TPP1 Molecular Diagnostics / PCR
PRICKLE1, PRICKLE2, PRRT2, PUS1 QARS RAB39B RANBP2 PRICKLE1, PRICKLE2, PRRT2, PUS1 QARS RAB39B RANBP2 Molecular Diagnostics / PCR
PROC PROC Molecular Diagnostics / PCR
PROS PROS Molecular Diagnostics / PCR
PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A, TUBB4A PRRT2, SGCE, SLC2A1, SPR, TH, THAP1, TOR1A, TUBB4A Molecular Diagnostics / PCR
PSEN1, PSEN2, SIGMAR1, TARDBP, TBK1, TREM2, UBQLN2, VCP, VPS35 PSEN1, PSEN2, SIGMAR1, TARDBP, TBK1, TREM2, UBQLN2, VCP, VPS35 Molecular Diagnostics / PCR
PTCH1 PTCH1 Molecular Diagnostics / PCR
PTCH1, SHH, SIX3, SMAD2, ZIC2 PTCH1, SHH, SIX3, SMAD2, ZIC2 Molecular Diagnostics / PCR
PTEN, RAD51C, RAD51D, TP53 PTEN, RAD51C, RAD51D, TP53 Molecular Diagnostics / PCR
PTEN, SDHB, SDHD PTEN, SDHB, SDHD Molecular Diagnostics / PCR
PTEN, TP53, EZH2 PTEN, TP53, EZH2 Molecular Diagnostics / PCR
Panel, TruSight Hereditary Panel, TruSight Hereditary Molecular Diagnostics / PCR
Parkinson Parkinson: Molecular Diagnostics / PCR
Parkinson ATP1A3 Parkinson ATP1A3 Molecular Diagnostics / PCR
Parkinson PARK2, LRRK2, SNCA Parkinson PARK2, LRRK2, SNCA Molecular Diagnostics / PCR
Parkinson PINK1, PARK7 Parkinson PINK1, PARK7 Molecular Diagnostics / PCR
Pelizaeus-Merzbacher Erkrankung Pelizaeus-Merzbacher Erkrankung Molecular Diagnostics / PCR
Pendred Syndrom SLC26A4; Pendred-Syndrom Molecular Diagnostics / PCR
Pendred Syndrom SLC26A4 Pendred Syndrom SLC26A4 Molecular Diagnostics / PCR
Peutz-Jeghers Syndrom STK11; V. a. Peutz-Jeghers-Syndrom Molecular Diagnostics / PCR
Phenylketonurie Phenylketonurie Molecular Diagnostics / PCR
Phenylketonurie PAH Phenylketonurie PAH Molecular Diagnostics / PCR
Phäochromozytom-Syndrom Phäochromozytom-Syndrom Molecular Diagnostics / PCR
Pitt-Hopkins Syndrom Pitt-Hopkins Syndrom Molecular Diagnostics / PCR
Pitt-Hopkins Syndrom NRXN1 Pitt-Hopkins Syndrom NRXN1 Molecular Diagnostics / PCR
Pitt-Hopkins Syndrom TCF4 Pitt-Hopkins Syndrom TCF4 Molecular Diagnostics / PCR
Polyzystische Nierenerkrankung Polyzystische Nierenerkrankung Molecular Diagnostics / PCR
Prader Willi Syndrom Prader-Willi-Syndrom: Molecular Diagnostics / PCR
Primäre Mikrozephalie (rezessiv) Primäre Mikrozephalie (rezessiv) Molecular Diagnostics / PCR
Protein C-Mangel Protein-C-Mangel Molecular Diagnostics / PCR
Protein S-Mangel Protein-S-Mangel Molecular Diagnostics / PCR
Prämature Ovarialinsuffizienz Prämature Ovarialinsuffizienz Molecular Diagnostics / PCR
RAI1 RAI1 Molecular Diagnostics / PCR
RAI1, SCN1A, SMARCB1, TCF4, TSC2, UBE3A, VPS13B, ZEB2 RAI1, SCN1A, SMARCB1, TCF4, TSC2, UBE3A, VPS13B, ZEB2 Molecular Diagnostics / PCR
RB1 RB1 Molecular Diagnostics / PCR
RET, VHL, NF1 RET, VHL, NF1 Molecular Diagnostics / PCR
RNF135, SETD2, SNX14, SYN1, TBC1D7, SHANK3 RNF135, SETD2, SNX14, SYN1, TBC1D7, SHANK3 Molecular Diagnostics / PCR
RPS6KA3 (RSK2) RPS6KA3 (RSK2) Molecular Diagnostics / PCR
RUNX1, TET2, DNMT3A RUNX1, TET2, DNMT3A Molecular Diagnostics / PCR
Retardierung, X-chr. Retardierung, X-chr. Molecular Diagnostics / PCR
Retinoblastom Retinoblastom: RB1 Molecular Diagnostics / PCR
Rubinstein-Taybi Syndrom Rubinstein-Taybi-Syndrom: Molecular Diagnostics / PCR
SALL1, PKHD1, PKD2 SALL1, PKHD1, PKD2 Molecular Diagnostics / PCR
SALL4, TBX5 SALL4, TBX5 Molecular Diagnostics / PCR
SDHA, SDHAF2, SDHB, SDHC, SMARCB1, TMEM127 SDHA, SDHAF2, SDHB, SDHC, SMARCB1, TMEM127 Molecular Diagnostics / PCR
SDHB, SDHC, SDHD, SDHAF2 SDHB, SDHC, SDHD, SDHAF2 Molecular Diagnostics / PCR
SEPT12, SPATA16, SYCP3, TEX14, USP9Y SEPT12, SPATA16, SYCP3, TEX14, USP9Y Molecular Diagnostics / PCR
SERPINA1 (LRG_575t1:c.863A>T, LRG_575t1: c.1096G>A) SERPINA1 (LRG_575t1:c.863A>T, LRG_575t1: c.1096G>A) Molecular Diagnostics / PCR
SGCD, TAZ, TCAP, TGFB3, VCL SGCD, TAZ, TCAP, TGFB3, VCL Molecular Diagnostics / PCR
SGCE SGCE Molecular Diagnostics / PCR
SGCE, STXBP1, TCF4, TSC1, UBE3A, WSF1, ZEB2 SGCE, STXBP1, TCF4, TSC1, UBE3A, WSF1, ZEB2 Molecular Diagnostics / PCR
SHOX SHOX Molecular Diagnostics / PCR
SIGMAR1, SLC5A7, TFG, UBA1 (UBE1), VAPB, VRK1 SIGMAR1, SLC5A7, TFG, UBA1 (UBE1), VAPB, VRK1 Molecular Diagnostics / PCR
SIX1, SIX5, PKD2 (NM_000297.3, Exon 1) SIX1, SIX5, PKD2 (NM_000297.3, Exon 1) Molecular Diagnostics / PCR
SLC6A8 SLC6A8 Molecular Diagnostics / PCR
SMARCA4, SMARCE1, TERF2IP, XPC, XRCC2 SMARCA4, SMARCE1, TERF2IP, XPC, XRCC2 Molecular Diagnostics / PCR
SMARCB1, SMC1A, SMC3, TSC1, TSC2, UBE2A, UBE3A, VPS13B, ZEB2 SMARCB1, SMC1A, SMC3, TSC1, TSC2, UBE2A, UBE3A, VPS13B, ZEB2 Molecular Diagnostics / PCR
SMN1 / SMN2 SMN1 / SMN2 Molecular Diagnostics / PCR
SMN1; Spinale Muskelatrophie SMN1; Spinale Muskelatrophie Molecular Diagnostics / PCR
SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP SOD1, SQSTM1, TARDBP, UBQLN2, VAPB, VCP Molecular Diagnostics / PCR
SPG11;V. a. spastische Paraplegie SPG11;V. a. spastische Paraplegie Molecular Diagnostics / PCR
SQSTM1, TARDBP, TBK1, UBQLN2, VCP, VPS35 SQSTM1, TARDBP, TBK1, UBQLN2, VCP, VPS35 Molecular Diagnostics / PCR
SRSF2 (LRG_640t1: Exon SRSF2 (LRG_640t1: Exon 1), Molecular Diagnostics / PCR
STS STS Molecular Diagnostics / PCR
Schizenzephalie Schizenzephalie Molecular Diagnostics / PCR
Schizenzephalie EMX2 Schizenzephalie EMX2 Molecular Diagnostics / PCR
Schizenzephalie SHH, SIX3 Schizenzephalie SHH, SIX3 Molecular Diagnostics / PCR
Schwannomatose NF2, SMARCB1 Schwannomatose NF2, SMARCB1 Molecular Diagnostics / PCR
Schwerhörigkeit Sensoneurale Schwerhörigkeit Molecular Diagnostics / PCR
Schwerhörigkeit Sensorineurale Schwerhörigkeit Molecular Diagnostics / PCR
Schwerhörigkeit GJB2, GJB3, STRC, USH2A, WFS1, SLC26A4 Schwerhörigkeit GJB2, GJB3, STRC, USH2A, WFS1, SLC26A4 Molecular Diagnostics / PCR
Schwerhörigkeit GPR98, OTOA Schwerhörigkeit GPR98, OTOA Molecular Diagnostics / PCR
Schwerhörigkeit GPR98, POU3F4, OTOA Schwerhörigkeit GPR98, POU3F4, OTOA Molecular Diagnostics / PCR
Simpson-Golabi-Behmel Simpson-Golabi-Behmel Molecular Diagnostics / PCR
Simpson-Golabi-Behmel Syndrom Simpson-Golabi-Behmel-Syndrom Molecular Diagnostics / PCR
Skelettdysplasie Skelettdysplasie Molecular Diagnostics / PCR
Skelettdysplasie COL11A1, EVC2 Skelettdysplasie COL11A1, EVC2 Molecular Diagnostics / PCR
Skelettdysplasie COL1A1, COL1A2, COL2A1, KAL1, SHOX, FGFR3 Skelettdysplasie COL1A1, COL1A2, COL2A1, KAL1, SHOX, FGFR3 Molecular Diagnostics / PCR
Skelettdysplasie COL1A1, COL2A1, KAL1, SHOX, FGFR3 Skelettdysplasie COL1A1, COL2A1, KAL1, SHOX, FGFR3 Molecular Diagnostics / PCR
Skelettdysplasie SLC26A2 Skelettdysplasie SLC26A2 Molecular Diagnostics / PCR
Skelettdysplasie TruSight Skelettdysplasie TruSight Molecular Diagnostics / PCR
Skelettdysplasie TruSight One Skelettdysplasie TruSight One Molecular Diagnostics / PCR
Smith-Magenis Syndrom 17p11.2 Smith-Magenis Syndrom 17p11.2 Molecular Diagnostics / PCR
Sotos Syndrom EZH2 Sotos Syndrom EZH2 Molecular Diagnostics / PCR
Spastische Ataxie SPG7, REEP1, SACS Spastische Ataxie SPG7, REEP1, SACS Molecular Diagnostics / PCR
Spastische Ataxie SPG7, SACS Spastische Ataxie SPG7, SACS Molecular Diagnostics / PCR
Spastische Paraplegie ATL1, SPG11, SPG7 Spastische Paraplegie ATL1, SPG11, SPG7 Molecular Diagnostics / PCR
Spastische Paraplegie L1CAM, SLC2A1, SPAST Spastische Paraplegie L1CAM, SLC2A1, SPAST Molecular Diagnostics / PCR
Spastische Paraplegie SLC26A2 Spastische Paraplegie SLC26A2 Molecular Diagnostics / PCR
Spinale Muskelatrophie AR Spinale Muskelatrophie AR Molecular Diagnostics / PCR
Spinale Muskelatrophie SETX Spinale Muskelatrophie SETX Molecular Diagnostics / PCR
Spinale Muskelatrophie TruSight Spinale Muskelatrophie TruSight Molecular Diagnostics / PCR
Spinocerebelläre Ataxie Spinocerebelläre Ataxie Molecular Diagnostics / PCR
Stickler-Syndrom Typ 2 Stickler-Syndrom Typ 2 Molecular Diagnostics / PCR
Störung der Spermatogenese Störung der Spermatogenese Molecular Diagnostics / PCR
Subtelomer Subtelomer Molecular Diagnostics / PCR
Syndrom ANK2, CACNA1C, CASQ2, KCNE3, KCNJ2, SCN1B Syndrom ANK2, CACNA1C, CASQ2, KCNE3, KCNJ2, SCN1B Molecular Diagnostics / PCR
Syndrom COL11A1 Syndrom COL11A1 Molecular Diagnostics / PCR
Syndrom COL2A1 Syndrom COL2A1 Molecular Diagnostics / PCR
Syndrom Typ 2 Usher-Syndrom Typ 2 Molecular Diagnostics / PCR
Syndrom Typ 2 Laborpanel Syndrom Typ 2 Laborpanel Molecular Diagnostics / PCR
TARDBP, TBK1, TREM2, VCP, VPS35 TARDBP, TBK1, TREM2, VCP, VPS35 Molecular Diagnostics / PCR
TBX1 TBX1 Molecular Diagnostics / PCR
TC, MIT-CO1, MT-CO2, MT-CO3, ATP6 TC, MIT-CO1, MT-CO2, MT-CO3, ATP6 Molecular Diagnostics / PCR
TCTN1, TCTN2, TCTN3, TDP1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TRPC3, TTBK2, TTC21B, VAMP1, WWOX, ZNF423 TCTN1, TCTN2, TCTN3, TDP1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TRPC3, TTBK2, TTC21B, VAMP1, WWOX, ZNF423 Molecular Diagnostics / PCR
TGFBR1, TGFBR2, COL3A1 TGFBR1, TGFBR2, COL3A1 Molecular Diagnostics / PCR
TMC1, TMPRSS3, TPRN, USH1G, USH2A, WFS1 TMC1, TMPRSS3, TPRN, USH1G, USH2A, WFS1 Molecular Diagnostics / PCR
TMEM67, TRPC3, TTBK2, VAMP1, WWOX, ZNF423 TMEM67, TRPC3, TTBK2, VAMP1, WWOX, ZNF423 Molecular Diagnostics / PCR
TP53, EZH2 TP53, EZH2 Molecular Diagnostics / PCR
TRPS1 TRPS1 Molecular Diagnostics / PCR
TSC1, TSC2, TSFM, TTC19, TUBB4A, TUFM, TYMP, UBE2A, UBE3A, UBR5, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, WWOX YARS2 ZEB2 TSC1, TSC2, TSFM, TTC19, TUBB4A, TUFM, TYMP, UBE2A, UBE3A, UBR5, UQCRB, UQCRC2, UQCRQ, VARS2, WDR45, WFS1, WWOX YARS2 ZEB2 Molecular Diagnostics / PCR
TSC1, TSC2, UBE2A, UBE3A, ZEB2 TSC1, TSC2, UBE2A, UBE3A, ZEB2 Molecular Diagnostics / PCR
TTN TTN Molecular Diagnostics / PCR
Temple Syndrom (TS14) Temple Syndrom (TS14) Molecular Diagnostics / PCR
Thorakale Aortenerweiterung Thorakale Aortenerweiterung Molecular Diagnostics / PCR
Treacher-Collins Syndrom Treacher-Collins-Syndrom Molecular Diagnostics / PCR
Trichorhinophalangeales Syndrom Trichorhinophalangeales Syndrom Molecular Diagnostics / PCR
TruSight Hereditary Cancer TruSight Hereditary Cancer Molecular Diagnostics / PCR
TruSight One expanded TruSight One expanded Molecular Diagnostics / PCR
TruSight One expanded Panel TruSight One expanded Panel Molecular Diagnostics / PCR
Tuberöse Sklerose Tuberöse Sklerose: TSC1, Molecular Diagnostics / PCR
Twist Bioscience for Illumina Twist Bioscience for Illumina Molecular Diagnostics / PCR
UBE3A UBE3A Molecular Diagnostics / PCR
UPD2, UPD5, UPD6, UPD7, UPD11, UPD14, UPD15, UPD16, UPD18, UPD20, UPD22, UPDX UPD2, UPD5, UPD6, UPD7, UPD11, UPD14, UPD15, UPD16, UPD18, UPD20, UPD22, UPDX Molecular Diagnostics / PCR
UQCRC2, UQCRQ, VARS2, WFS1, WWOX, YARS2, ZEB2 UQCRC2, UQCRQ, VARS2, WFS1, WWOX, YARS2, ZEB2 Molecular Diagnostics / PCR
Uniparentale Disomie Uniparentale Disomie Molecular Diagnostics / PCR
Uniparentale Disomie UPD14 Uniparentale Disomie UPD14 Molecular Diagnostics / PCR
VHL, FH, FLCN, MET, WT1 VHL, FH, FLCN, MET, WT1 Molecular Diagnostics / PCR
VHL, NF1, PDGFRA, SDHA, TMEM127 VHL, NF1, PDGFRA, SDHA, TMEM127 Molecular Diagnostics / PCR
Ventrikuläre Tachykardie ventrikuläre Tachykardie Molecular Diagnostics / PCR
Ventrikuläre Tachykardie CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, PKP2, RYR2, SCN5A Ventrikuläre Tachykardie CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, PKP2, RYR2, SCN5A Molecular Diagnostics / PCR
WFS1, CISD2 (WFS2) WFS1, CISD2 (WFS2) Molecular Diagnostics / PCR
Waardenburg Syndrom Waardenburg-Syndrom Molecular Diagnostics / PCR
Waardenburg Syndrom EDN3, EDNRB, MITF, PAX3, SOX10 Waardenburg Syndrom EDN3, EDNRB, MITF, PAX3, SOX10 Molecular Diagnostics / PCR
Weaver Syndrom Weaver-Syndrom: EZH2, EED, SUZ12, HACE1, NSD1, NFIX Molecular Diagnostics / PCR
Wolfram Syndrom Wolfram Syndrom Molecular Diagnostics / PCR
Wolfram Syndrom WFS1 Wolfram Syndrom WFS1 Molecular Diagnostics / PCR
Xq12, Xq22.3, Xq23, Xq24, Xq27.3, Xq28 Xq12, Xq22.3, Xq23, Xq24, Xq27.3, Xq28 Molecular Diagnostics / PCR
analysiert. analysiert. Molecular Diagnostics / PCR
autosomal-dominant autosomal-dominant Molecular Diagnostics / PCR
c.2846A>T, LRG_722t1:c.1129- c.2846A>T, LRG_722t1:c.1129- Molecular Diagnostics / PCR
for Illumina Exome 2.5 for Illumina Exome 2.5 Molecular Diagnostics / PCR
msMLPA 11p15.5, CDKN1C msMLPA 11p15.5, CDKN1C Molecular Diagnostics / PCR
msMLPA 14q32.2 msMLPA 14q32.2 Molecular Diagnostics / PCR
msMLPA 15q11.2 msMLPA 15q11.2 Molecular Diagnostics / PCR
Ödem F12 Ödem F12 Molecular Diagnostics / PCR
Ödem SERPING1 Ödem SERPING1 Molecular Diagnostics / PCR
(LRG_1021t1: Exon (LRG_1021t1: Exon Other
(LRG_1122t1: Exons 26, NOTCH1 (LRG_1122t1: Exons Other
(LRG_1150t1: Exon 4), SF3B1 SETBP1 (LRG_1150t1: Exon Other
(LRG_157t1: c.794T>C), RUNX1, TET2 MAP2K1, MYD88 (LRG_157t1: Other
(LRG_307t1: Exons 2, 8, 13 und 17), KRAS (LRG_344t1: DNMT3A, KIT (LRG_307t1: Other
(LRG_457t1: Exons 14, 15 CEBPA, FLT3 (LRG_457t1: Other
(LRG_458t1: Exon 11), RUNX1, NRAS, NPM1 (LRG_458t1: Other
(LRG_553t1:c.1001G>C, Cambridge), F13 F5 (LRG_553t1:c.1601G>A, LRG_553t1:c.3980A>G, HR2), MTHFR (LRG_726t1:c.665C>T), PAI / SERPINE1 (LRG_597t1:c.- Other
(LRG_612t1: Exons 12 und (LRG_612t1: Exons 12 und Other
(LRG_748t1:c.187C>G, LRG_748t1: (LRG_748t1:c.187C>G, LRG_748t1: Other
(LRG_828t1: Exon 8 und 9), (LRG_510t1: Exon 10), ASXL1 BCOR, CALR (LRG_828t1: Exon Other
(LRG_92t1: Exons 2 und (LRG_92t1: Exons 2 und 3), PTEN, RUNX1, SF3B1 (LRG_624t2: Other
(NC_012920: m.14310-14673), ATP6, MT-ATP8, MT-TK, MT-RNR1 (NC_012920: m.4920-5505), ND3, MT-ND4 (NC_012920:m.11725- Other
(NM_000516.5: Exon 8 und (NM_000516.5: Exon 8 und Other
12238), MT-ND5, MT-ND6 12238), MT-ND5, MT-ND6 Other
13-17), TP53 13-17), TP53 Other
14, 15 und 20), GNAS 14, 15 und 20), GNAS Other
2,3,7,8,9,12,13,15), FGFR3 2,3,7,8,9,12,13,15), FGFR3 Other
5,7,8,9,10,12,13,14,15,18) 5,7,8,9,10,12,13,14,15,18) Other
5,7,8,9,10,12,13,14,15,18), TWIST1 5,7,8,9,10,12,13,14,15,18), TWIST1 Other
5923C>G, LRG_722t1:c.1236G>A) 5923C>G, LRG_722t1:c.1236G>A) Other
675del) 675del) Other
8, 9, 10, 11, 13 und 17), WT1 8, 9, 10, 11, 13 und 17), WT1 Other
ANKRD26 (5' UTR NM_014915.3:c.- ANKRD26 (5' UTR NM_014915.3:c.- Other
ATM, BCOR, BRAF (LRG_299t1: ATM, BCOR, BRAF (LRG_299t1: Other
AZF-Deletionen (Mikrodeletionen AZF-Deletionen (Mikrodeletionen Other
Adipositas ENPP1 (LRG_1288t1: Adipositas ENPP1 (LRG_1288t1: Other
Alpha-1-Antitrypsin (SERPINA1- Alpha-1-Antitrypsin (SERPINA1- Other
Antithrombin-Mangel (SERPINC1 Antithrombin-Mangel (SERPINC1 Other
BIRC3 (LRG_1423t1: Exon BIRC3 (LRG_1423t1: Exon Other
CBL (LRG_608t1: Exons 8 CBL (LRG_608t1: Exons 8 und Other
DHCR7 Smith-Lemli-Opitz-Syndrom (DHCR7 Other
DMD Muskeldystrophie Becker (DMD Other
DNMT3A, EGR2 (LRG_239t1: DNMT3A, EGR2 (LRG_239t1: Other
DPYD (LRG_722t1:c.1905+1G>A, LRG_722t1:c.1679T>G, LRG_722t1: DPYD (LRG_722t1:c.1905+1G>A, LRG_722t1:c.1679T>G, LRG_722t1: Other
Exon 1, c.1-c.200) Exon 1, c.1-c.200) Other
Exon 2,3,7,8,9,12,13,15), FGFR3 Exon 2,3,7,8,9,12,13,15), FGFR3 Other
Exon 23) Exon 23) Other
Exons 2, 4 und 5), NOTCH1 Exons 2, 4 und 5), NOTCH1 Other
Exons 26, 27 und 34), NRAS Exons 26, 27 und 34), NRAS Other
Exons 7 und 9), ZRSR2 Exons 7 und 9), ZRSR2 Other
FMR1 Tremor-Ataxie-Syndrom (FMR1 Other
Faktor IX-Mangel (Hämophilie Faktor IX-Mangel (Hämophilie Other
Friedreich‘sche Ataxie Friedreich‘sche Ataxie Other
GATA2, GNB1, IDH1 (LRG_610t1: GATA2, GNB1, IDH1 (LRG_610t1: Other
Genbezeichnung ZNF9), Dystrophie Typ 2, PROMM Genbezeichnung ZNF9), Dystrophie Typ 2, PROMM Other
KMT2A-PTD, KRAS (LRG_344t1: KMT2A-PTD, KRAS (LRG_344t1: Other
KRAS, NRAS, DNMT3A (LRG_459t4: KRAS, NRAS, DNMT3A (LRG_459t4: Other
Kraniosynostosen FGFR1, (LRG_994T1: Exon Kraniosynostosen FGFR1, (LRG_994T1: Exon Other
LADD-Syndrom FGFR2 (LRG_994T1: LADD-Syndrom FGFR2 (LRG_994T1: Other
Morbus Meulengracht (UGT1A1 Morbus Meulengracht (UGT1A1 Other
Panel), NRXN1 (Epilepsie-Panel) Panel), NRXN1 (Epilepsie-Panel) Other
RUNX1, TET2, DNMT3A (LRG_459t4: RUNX1, TET2, DNMT3A (LRG_459t4: Other
Syndrom) Syndrom) Other
Syndrom) EYA1 Syndrom) EYA1 Other
Syndrom) SIX1, SIX5 Syndrom) SIX1, SIX5 Other
TET2, TP53, U2AF1 (LRG_615t2: TET2, TP53, U2AF1 (LRG_615t2: Other
TP53, U2AF1 (LRG_615t2: TP53, U2AF1 (LRG_615t2: Other
c.1000-c.1415) c.1000-c.1415) Other
c.1415) c.1415) Other
c.845G>A), HFE, BMP6-Exon1 c.845G>A), HFE, BMP6-Exon1 Other
m.14310-14673), MT-ATP6, ATP8, MT-TK, MT-RNR1 m.14310-14673), MT-ATP6, ATP8, MT-TK, MT-RNR1 Other
und 3), RUNX1, SETBP1 und 3), RUNX1, SETBP1 Other
und 5), ZRSR2 und 5), ZRSR2 Other
(Reflexionsfaktor) -180° (Reflexionsfaktor) -180° Radio Frequency
CDKN1C CDKN1C Spectroscopy (XRF, ICP, AAS)
Cofaktor vWF:RCo Cofaktor vWF:RCo Spectroscopy (XRF, ICP, AAS)
HCG) freies beta-HCG (TFHCG) Spectroscopy (XRF, ICP, AAS)
Protein A (PAPP-A) Protein-A (PAPP-A) Spectroscopy (XRF, ICP, AAS)
BMPR1A, PTEN, SMAD4 BMPR1A, PTEN, SMAD4 Sterility Testing
expanded Panel expanded Panel Sterility Testing
*) 1 bar; 2 bar *) 1 bar; 2 bar Temperature / Pressure
GLI3 GLI3 Tensile / Compression / Flexural
msMLPA 15q11.2, UBE3A msMLPA 15q11.2, UBE3A Tensile / Compression / Flexural

Send an Enquiry

Request a quote, ask about capacity, or discuss your testing requirements directly with this lab.

Please select a test method from the list
Report incorrect or outdated information
0 labs selected
Compare