ScopeDNA Diagnostik Hamburg MVZ GbR Abteilung Molekulargenetik
195 capabilities
Accredited since June 2025
Verified Oct 2026
One of 3,209 in Germany
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Altonaer Straße 61-63
Hamburg 20357 , Germany
Hamburg 20357 , Germany
Accreditation
Active
DAkkS
D-ML-21979-01-00
dna-diagnostik.hamburg/molekulargenetik/molekul...
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Conducts molecular genetic testing using polymerase chain reaction and fragment length analysis, with scope including HLA typing, chromosomal deletion analysis, and genetic marker testing on blood and DNA samples.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-21979-01-00
Status
ActiveSince
17 June 2025
Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.
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Test Capabilities (195)
| Standard Reference | Description | Category |
|---|---|---|
| Alpha 1-Antitrypsin-Mangel | Alpha-1-Antitrypsin-Mangel | Elemental Analysis |
| Chorea Huntington (HTT) | Chorea Huntington (HTT) | Elemental Analysis |
| Protein Z-Mangel (PROZ) | Protein-Z-Mangel (PROZ) | Food Safety Testing |
| (<25kb)) | kombinierte (Basispanel (<25kb): APOA5, APOB (Ex26), APOC2, APOE, GPIHBP1, LDLR, LDLRAP1, LPL, NPC1L1; PCSK9, SORT1, USF1; CNV: LDLR, LPL) | Molecular Diagnostics / PCR |
| (CACNA1, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, TRPM4 (<25kb-Panel) CNV: SCN5A) | (CACNA1, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, TRPM4 (<25kb-Panel) CNV: SCN5A) | Molecular Diagnostics / PCR |
| (CFTR) | (CFTR) | Molecular Diagnostics / PCR |
| (CMD) ( COL6A1, COL6A2, COL6A3, FKRP, LAMA2, LMNA; CNV: FKRP, LAMA2, LMNA) | (CMD) ( COL6A1, COL6A2, COL6A3, FKRP, LAMA2, LMNA; CNV: FKRP, LAMA2, LMNA) | Molecular Diagnostics / PCR |
| (DMD) | Becker (DMD) | Molecular Diagnostics / PCR |
| (HLA B*27) | HLA-Typsierung (HLA-B*27) | Molecular Diagnostics / PCR |
| (HMBS) | (HMBS) | Molecular Diagnostics / PCR |
| (MEFV) | Familiäres Mittelmeerfieber (MEFV) | Molecular Diagnostics / PCR |
| (RET) | (RET) | Molecular Diagnostics / PCR |
| (SERPINA1) | (SERPINA1) | Molecular Diagnostics / PCR |
| (STK11) | Peutz-Jeghers-Syndrom (STK11) | Molecular Diagnostics / PCR |
| (Sequenzierung der Exons 5, 8, 10, 11, 13, 14, 15 und 16 des RET-Gens) | (Sequenzierung der Exons 5, 8, 10, 11, 13, 14, 15 und 16 des RET-Gens) | Molecular Diagnostics / PCR |
| 118220, 118200, 302800 | 118220, 118200, 302800 | Molecular Diagnostics / PCR |
| 2)) | OMIM# 274270 (DPYD*2A (rs3918290), DPYD*13 (rs55886062), Polymorphismus rs67376798, HaplotypB3 (rs7507182)) | Molecular Diagnostics / PCR |
| 22q11 Deletions Syndrom | 22q11 Deletions Syndrom | Molecular Diagnostics / PCR |
| 5-Fluorouracil-Toxizität (FU, DPYD- Gen) | 5-Fluorouracil-Toxizität (FU, DPYD- Gen) | Molecular Diagnostics / PCR |
| Adrenogenitales Syndrom | Adrenogenitales Syndrom | Molecular Diagnostics / PCR |
| Alpha | Thalassämie, Alpha | Molecular Diagnostics / PCR |
| Alzheimer-Demenz – | Alzheimer-Demenz – | Molecular Diagnostics / PCR |
| Amyloidose, hereditäre – | Amyloidose, hereditäre – | Molecular Diagnostics / PCR |
| Angelman Syndrom, OMIM# 105830, Analyse des | Angelman Syndrom, OMIM# 105830, Analyse des | Molecular Diagnostics / PCR |
| Antihrombin-Mangel (SERPINC1) | Antihrombin-Mangel (SERPINC1) | Molecular Diagnostics / PCR |
| Ataxia Teleangiectasia (ATM) | Ataxia Teleangiectasia (ATM) | Molecular Diagnostics / PCR |
| Azoospermiefaktor (AZFa/AZFb/AZFc) | Azoospermiefaktor (AZFa/AZFb/AZFc) | Molecular Diagnostics / PCR |
| BARD1 , BRCA1 , BRCA2 , BRIP1 | BARD1 , BRCA1 , BRCA2 , BRIP1 | Molecular Diagnostics / PCR |
| BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1 (<25kb)) | BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1 (<25kb) | Molecular Diagnostics / PCR |
| Becker-Muskeldystrophie (DMD) | Becker-Muskeldystrophie (DMD) | Molecular Diagnostics / PCR |
| Beckwith-Wiedemann Syndrom | Beckwith-Wiedemann-Syndrom | Molecular Diagnostics / PCR |
| Brugada-Syndrom – Paneldiagnostik | Brugada-Syndrom – Paneldiagnostik | Molecular Diagnostics / PCR |
| CADASIL | CADASIL | Molecular Diagnostics / PCR |
| CAV3, MYBPC3, MYH7 | CAV3, MYBPC3, MYH7 | Molecular Diagnostics / PCR |
| CDH1 , CDKN2A , CHEK2 , EPCAM | CDH1 , CDKN2A , CHEK2 , EPCAM | Molecular Diagnostics / PCR |
| Cowden-Like-Syndrom (AKT1, KLLN, PIC3CA, PTEN, SEC23B, SDHB, SDHC, SDHD; CNV: KLLN, PTEN, SDHB, SDHC, SDHD) | Cowden-Like-Syndrom (AKT1, KLLN, PIC3CA, PTEN, SEC23B, SDHB, SDHC, SDHD; CNV: KLLN, PTEN, SDHB, SDHC, SDHD) | Molecular Diagnostics / PCR |
| Cowden-Syndrom (PTEN) | Cowden-Syndrom (PTEN) | Molecular Diagnostics / PCR |
| Cystische Fibrose/ Mukoviszidose | Cystische Fibrose/ Mukoviszidose | Molecular Diagnostics / PCR |
| DIN EN 107 (1982-02) | OMIM# 608107 | Molecular Diagnostics / PCR |
| DIN EN 430 (1994-11) | OMIM# 188400, 192430 | Molecular Diagnostics / PCR |
| DIN EN ISO 13254 (2018-01) | OMIM# 613254 | Molecular Diagnostics / PCR |
| DIN EN ISO 283 (2016-04) | OMIM# 612283 | Molecular Diagnostics / PCR |
| Dubin-Johnson-Syndrom (ABCC2) | Dubin-Johnson-Syndrom (ABCC2) | Molecular Diagnostics / PCR |
| Ehlers-Danlos-Syndrom (EDS), klassisch (COL5A1, COL5A2, COL1A1) | Ehlers-Danlos-Syndrom (EDS), klassisch (COL5A1, COL5A2, COL1A1) | Molecular Diagnostics / PCR |
| Ehlers-Danlos-Syndrom (EDS), vaskulär (COL3A1); CNV: COL3A1 | Ehlers-Danlos-Syndrom (EDS), vaskulär (COL3A1); CNV: COL3A1 | Molecular Diagnostics / PCR |
| Faktor 13-Mangel (F13A1, F13B) | Faktor 13-Mangel (F13A1, F13B) | Molecular Diagnostics / PCR |
| Faktor-V-Leiden-Mutation (FV-Gen, dbSNP rs6025) | Faktor-V-Leiden-Mutation (FV-Gen, dbSNP rs6025) | Molecular Diagnostics / PCR |
| Fettstoffwechselstörung – | Fettstoffwechselstörung – | Molecular Diagnostics / PCR |
| Fettstoffwechselstörung – HDL-C- Metabolismus (Basispanel (<25kb): ABCA1, ANGPTL4, APOA1, APOA2, APOA4, APOC3, CETP, LCAT, LIPC, LIPG, NPC1, NPC2, SCARB1, SMPD1) | Fettstoffwechselstörung – HDL-C- Metabolismus (Basispanel (<25kb): ABCA1, ANGPTL4, APOA1, APOA2, APOA4, APOC3, CETP, LCAT, LIPC, LIPG, NPC1, NPC2, SCARB1, SMPD1) | Molecular Diagnostics / PCR |
| Fettstoffwechselstörung – LDL- Mangel (ANGPTL3, APOB, APOE, MTTP, NPC1L1, PCSK9, SAR1B (<25kb)) | Fettstoffwechselstörung – LDL- Mangel (ANGPTL3, APOB, APOE, MTTP, NPC1L1, PCSK9, SAR1B (<25kb)) | Molecular Diagnostics / PCR |
| Fettstoffwechselstörung – Statin- assoziierte Myopathie (Basispanel (<25kb): ACADM, ACADS, ACADVL, AMPD1, CACNA1S, CAV3, CPT2, LPIN1, PYGM, RYR1 (nur Exons 8,17,29,50,63)) | Fettstoffwechselstörung – Statin- assoziierte Myopathie (Basispanel (<25kb): ACADM, ACADS, ACADVL, AMPD1, CACNA1S, CAV3, CPT2, LPIN1, PYGM, RYR1 (nur Exons 8,17,29,50,63)) | Molecular Diagnostics / PCR |
| Fiebersyndrome, periodische – | Fiebersyndrome, periodische – | Molecular Diagnostics / PCR |
| Fruktose-Intoleranz, hereditäre (ALDOB) | Fruktose-Intoleranz, hereditäre (ALDOB) | Molecular Diagnostics / PCR |
| GAA | GAA | Molecular Diagnostics / PCR |
| Gestationsdiabetes – | Gestationsdiabetes – | Molecular Diagnostics / PCR |
| Glaukom – Paneldiagnostik (BEST1, CYP1B1, FOXC1, LTBP2, MYOC, OPTN, PAX6, PITX2, TBK1, TEK, WDR36 (<25kb Panel); CNV: BEST1, CYP1B1, FOXC1, PAX6, PITX2) | Glaukom – Paneldiagnostik (BEST1, CYP1B1, FOXC1, LTBP2, MYOC, OPTN, PAX6, PITX2, TBK1, TEK, WDR36 (<25kb Panel); CNV: BEST1, CYP1B1, FOXC1, PAX6, PITX2) | Molecular Diagnostics / PCR |
| Hyper IgE Syndrom (HIES, STAT3- Gen) OMIM# 147060 | Hyper IgE Syndrom (HIES, STAT3- Gen) OMIM# 147060 | Molecular Diagnostics / PCR |
| Hypercholesterinämie (Basispanel (<25kb): Sequenzierung und CNV: APOB, LDLR; LDLRAP1, PCSK9 - Erweiterte Diagnostik (>25kb): Sequenzierung: ABCG5, ABCG8, APOB, APOE, CYP27A1, DHCR7, DHCR24, LDLR, LDLRAP1, LIPA, NPC1L1, PCSK9, SORT1; CNV: DHCR7, LDLR) | Hypercholesterinämie (Basispanel (<25kb): Sequenzierung und CNV: APOB, LDLR; LDLRAP1, PCSK9 - Erweiterte Diagnostik (>25kb): Sequenzierung: ABCG5, ABCG8, APOB, APOE, CYP27A1, DHCR7, DHCR24, LDLR, LDLRAP1, LIPA, NPC1L1, PCSK9, SORT1; CNV: DHCR7, LDLR) | Molecular Diagnostics / PCR |
| Hyperinsulinismus, kongenitaler – | Hyperinsulinismus, kongenitaler – | Molecular Diagnostics / PCR |
| Hyperlipidämie, familiär | Hyperlipidämie, familiär | Molecular Diagnostics / PCR |
| Hypertriglyzeridämie (APOA5, APOB (Ex 26), APOC2, APOC3, APOE, GCKR, GK, GPIHBP1, GPD1, LIPC, LMF1, LPL, USF1 (<25kb) CNV: LPL) | Hypertriglyzeridämie (APOA5, APOB (Ex 26), APOC2, APOC3, APOE, GCKR, GK, GPIHBP1, GPD1, LIPC, LMF1, LPL, USF1 (<25kb) CNV: LPL) | Molecular Diagnostics / PCR |
| Hämochromatose (FTH1, HAMP, HFE, HFE2, SLC40A1, TFR2) | Hämochromatose (FTH1, HAMP, HFE, HFE2, SLC40A1, TFR2) | Molecular Diagnostics / PCR |
| Kagami-Ogata Syndrom | Kagami-Ogata-Syndrom | Molecular Diagnostics / PCR |
| Kallmann-Syndrom – | Kallmann-Syndrom – | Molecular Diagnostics / PCR |
| Kardiomyopathien, hypertrophe | Kardiomyopathien, hypertrophe | Molecular Diagnostics / PCR |
| Karzinom Endometrium (MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN) | Karzinom Endometrium (MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN) | Molecular Diagnostics / PCR |
| Karzinom Magen (ATM, BMPR1A, CDH1, CHEK2, MLH1, MSH2, MSH6, PMS2, SMAD4, STK11, TP53) | Karzinom Magen (ATM, BMPR1A, CDH1, CHEK2, MLH1, MSH2, MSH6, PMS2, SMAD4, STK11, TP53) | Molecular Diagnostics / PCR |
| Karzinom, Ovar (BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, STK11, TP53) | Karzinom, Ovar (BRCA1, BRCA2, BRIP1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, STK11, TP53) | Molecular Diagnostics / PCR |
| Karzinom, Pankreas (APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) | Karzinom, Pankreas (APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) | Molecular Diagnostics / PCR |
| Karzinom, Prostata (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53) | Karzinom, Prostata (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53) | Molecular Diagnostics / PCR |
| Li-Fraumeni-Syndrom (TP53, CHEK2, CDKN2A) | Li-Fraumeni-Syndrom (TP53, CHEK2, CDKN2A) | Molecular Diagnostics / PCR |
| Lipodystrophie (Basispanel (<25kb): AGPAT2, BANF1, BSCL2, CAV1, CIDEC, KCNJ6, LEP, LIPE, LMNA, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, PTRF, SPRTN, ZMPSTE24) | Lipodystrophie (Basispanel (<25kb): AGPAT2, BANF1, BSCL2, CAV1, CIDEC, KCNJ6, LEP, LIPE, LMNA, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, PTRF, SPRTN, ZMPSTE24) | Molecular Diagnostics / PCR |
| LongQT-Syndrom – Paneldiagnostik | LongQT-Syndrom – Paneldiagnostik | Molecular Diagnostics / PCR |
| Maligne Hyperthermie (CACNA1S, RYR1) | Maligne Hyperthermie (CACNA1S, RYR1) | Molecular Diagnostics / PCR |
| Mangel (PROC) | Protein C-Mangel (PROC) | Molecular Diagnostics / PCR |
| Mangel (PROS1) | Protein S-Mangel (PROS1) | Molecular Diagnostics / PCR |
| Marfan Syndrom (FBN1, TGFBR1, TGFBR2) | Marfan Syndrom (FBN1, TGFBR1, TGFBR2) | Molecular Diagnostics / PCR |
| Maturity Onset Diabetes of the | Maturity-onset diabetes of the | Molecular Diagnostics / PCR |
| Melanom, malignes (CDKN2A) | Melanom, malignes (CDKN2A) | Molecular Diagnostics / PCR |
| Methylentetrahydrofolatreduktase (MTHFR-Gen, NM_005957, c.665C>T und c.1286A>C) | Methylentetrahydrofolatreduktase (MTHFR-Gen, NM_005957, c.665C>T und c.1286A>C) | Molecular Diagnostics / PCR |
| Methylierungsstatus und Deletions- Analyse (Region 14q32.2) | Methylierungsstatus und Deletions- Analyse (Region 14q32.2) | Molecular Diagnostics / PCR |
| Methylierungsstatus und Deletions- Analyse (Region: 11p15, H19, IGF2, CDKN1C, KCNQ1) | Methylierungsstatus und Deletions- Analyse (Region: PWS/AS (15q11- 13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2) | Molecular Diagnostics / PCR |
| Migräne, hemiplegische (FHM) (ATP1A2, CACNA1A, SCN1A CNV: CACNA1A, SCN1A) | Migräne, hemiplegische (FHM) (ATP1A2, CACNA1A, SCN1A CNV: CACNA1A, SCN1A) | Molecular Diagnostics / PCR |
| Morbus Hirschsprung (RET) | Morbus Hirschsprung (RET) | Molecular Diagnostics / PCR |
| Morbus Wilson (ATP7B) | Morbus Wilson (ATP7B) | Molecular Diagnostics / PCR |
| Multiple Endokrine Neoplasie Typ 2 | Multiple endokrine Neoplasie Typ 2 | Molecular Diagnostics / PCR |
| Muskeldystrophie, Gliedergürtel | Muskeldystrophie, Gliedergürtel | Molecular Diagnostics / PCR |
| Muskeldystrophie, kongenitale | Muskeldystrophie, kongenitale | Molecular Diagnostics / PCR |
| Mutationsanalyse der Gene | Mutationsanalyse der Gene | Molecular Diagnostics / PCR |
| Myopathie, Central Core (ACTA1, MYH7, RYR1, SEPN1; CNV: MYH7) | Myopathie, Central Core (ACTA1, MYH7, RYR1, SEPN1; CNV: MYH7) | Molecular Diagnostics / PCR |
| Myopathie, Zentronukleäre (BIN1, DNM2, MTM1, RYR1; CNV: MTM1) | Myopathie, Zentronukleäre (BIN1, DNM2, MTM1, RYR1; CNV: MTM1) | Molecular Diagnostics / PCR |
| NOONAN Syndrom | Noonan Syndrom: PTPN11 ; SOS1; RAF1; RIT1; KRAS; BRAF; NRAS; HRAS; NF1; MAP2K1; MAP2K2-Gen | Molecular Diagnostics / PCR |
| Neurofibromatose Typ1 (NF1) | Neurofibromatose Typ1 (NF1) | Molecular Diagnostics / PCR |
| Neurofibromatose Typ2 (NF2) | Neurofibromatose Typ2 (NF2) | Molecular Diagnostics / PCR |
| Neuropathie Charcot-Marie-Tooth | Neuropathie Charcot-Marie-Tooth | Molecular Diagnostics / PCR |
| Neuropathie, hereditäre motorisch | Neuropathie, hereditäre motorisch | Molecular Diagnostics / PCR |
| OMIM# 101000 | OMIM# 101000 | Molecular Diagnostics / PCR |
| OMIM# 107300 | OMIM# 107300 | Molecular Diagnostics / PCR |
| OMIM# 125310, (Sequenzierung und CNV: NOTCH3; Sequenzierung: TREX1) | OMIM# 125310, (Sequenzierung und CNV: NOTCH3; Sequenzierung: TREX1) | Molecular Diagnostics / PCR |
| OMIM# 130650, Analyse des | OMIM# 130650, Analyse des | Molecular Diagnostics / PCR |
| OMIM# 141800 | OMIM# 141800 | Molecular Diagnostics / PCR |
| OMIM# 141850 | OMIM# 141850 | Molecular Diagnostics / PCR |
| OMIM# 141900 | OMIM# 141900 | Molecular Diagnostics / PCR |
| OMIM# 142623 | OMIM# 142623 | Molecular Diagnostics / PCR |
| OMIM# 143100 | OMIM# 143100 | Molecular Diagnostics / PCR |
| OMIM# 155601, 606719, 155755 | OMIM# 155601, 606719, 155755 | Molecular Diagnostics / PCR |
| OMIM# 162200 | OMIM# 162200 | Molecular Diagnostics / PCR |
| OMIM# 166200, 166210, 610967, 613982 (Sequenzierung und CNV: COL1A1, COL1A2, Basispanel Sequenzierung und CNV: COL1A1, COL1A2, IFITM5, SERPINF1, CRTAP, P3H1. PPIB, SERPINH1, FKBP10, SP7 (<25kb)) | OMIM# 166200, 166210, 610967, 613982 (Sequenzierung und CNV: COL1A1, COL1A2, Basispanel Sequenzierung und CNV: COL1A1, COL1A2, IFITM5, SERPINF1, CRTAP, P3H1. PPIB, SERPINH1, FKBP10, SP7 (<25kb)) | Molecular Diagnostics / PCR |
| OMIM# 171400, 162300, 155240 | OMIM# 171400, 162300, 155240 | Molecular Diagnostics / PCR |
| OMIM# 176270, Analyse des | OMIM# 176270, Analyse des | Molecular Diagnostics / PCR |
| OMIM# 176880 | OMIM# 176880 | Molecular Diagnostics / PCR |
| OMIM# 180860, Analyse des | OMIM# 180860, Analyse des | Molecular Diagnostics / PCR |
| OMIM# 191100 | OMIM# 191100 | Molecular Diagnostics / PCR |
| OMIM# 208900 | OMIM# 208900 | Molecular Diagnostics / PCR |
| OMIM# 237500 | OMIM# 237500 | Molecular Diagnostics / PCR |
| OMIM# 277900 | OMIM# 277900 | Molecular Diagnostics / PCR |
| OMIM# 300376 | OMIM# 300376 | Molecular Diagnostics / PCR |
| OMIM# 310200, 300376 | OMIM# 310200, 300376 | Molecular Diagnostics / PCR |
| OMIM# 608149, Analyse des | OMIM# 608149, Analyse des | Molecular Diagnostics / PCR |
| OMIM# 613225, 613235 | OMIM# 613225, 613235 | Molecular Diagnostics / PCR |
| OMIM# 616222, Analyse des | OMIM# 616222, Analyse des | Molecular Diagnostics / PCR |
| OMIM' 193300 | OMIM' 193300 | Molecular Diagnostics / PCR |
| Osteogenesis imperfecta | Osteogenesis imperfecta | Molecular Diagnostics / PCR |
| Ovarialinsuffizienz, prämature (POI) | Ovarialinsuffizienz, prämature (POI) | Molecular Diagnostics / PCR |
| Paneldiagnostik (ABCC8, GLUD1, GCK, HNF1A, HNF1B, HNF4A, INSR, KCNJ11 (<25kb)) | Paneldiagnostik (ABCC8, GLUD1, GCK, HNF1A, HNF1B, HNF4A, INSR, KCNJ11 (<25kb)) | Molecular Diagnostics / PCR |
| Paneldiagnostik (ADCY3, ADIPOQ, ADRB2, AGRP, BDNF, CARTPT, GHRL, LEP, LEPR, MC3R, MC4R, NROB2, NTRK2, PCSK1, POMC, PPARG, SIM1, UCP1, UCP3) | Paneldiagnostik (ADCY3, ADIPOQ, ADRB2, AGRP, BDNF, CARTPT, GHRL, LEP, LEPR, MC3R, MC4R, NROB2, NTRK2, PCSK1, POMC, PPARG, SIM1, UCP1, UCP3) | Molecular Diagnostics / PCR |
| Paneldiagnostik (ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS (<25kb Panel)) | Paneldiagnostik (ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS (<25kb Panel)) | Molecular Diagnostics / PCR |
| Paneldiagnostik (ANOS1, CHD7, FGF8, FGFR1, PROK2, PROKR2 (<25kb)) | Paneldiagnostik (ANOS1, CHD7, FGF8, FGFR1, PROK2, PROKR2 (<25kb)) | Molecular Diagnostics / PCR |
| Paneldiagnostik (APOA1, B2M, FGA, GSN, LYZ, OSMR, TTR (<25kb)) | Paneldiagnostik (APOA1, B2M, FGA, GSN, LYZ, OSMR, TTR (<25kb)) | Molecular Diagnostics / PCR |
| Paneldiagnostik (APP, CHMP2B, CSF1R, FUS, GRN, ITM2B, MAPT, PRNP, PSEN1, PSEN2, SORL1, TREM2 und VCP (<25kb Panel); CNV- Analyse: APP, PSEN1, PSEN2, GRN, MAPT; ApoE2,E3,E4- Risikoallelbestimmung) | Paneldiagnostik (APP, CHMP2B, CSF1R, FUS, GRN, ITM2B, MAPT, PRNP, PSEN1, PSEN2, SORL1, TREM2 und VCP (<25kb Panel); CNV- Analyse: APP, PSEN1, PSEN2, GRN, MAPT; ApoE2,E3,E4- Risikoallelbestimmung) | Molecular Diagnostics / PCR |
| Paneldiagnostik (GCK, HNF1A, HNF1B, HNF4A) | Paneldiagnostik (GCK, HNF1A, HNF1B, HNF4A) | Molecular Diagnostics / PCR |
| Pankreatitis, hereditäre (PRSS1, SPINK1, CFTR, CTRC) | Pankreatitis, hereditäre (PRSS1, SPINK1, CFTR, CTRC) | Molecular Diagnostics / PCR |
| Paragangliom-Phäochromozytom- Syndrom, hereditäres (SDHA, SDHAF2, SDHB, SDHC, SDHD, RET, VHL, NF1; CNV: NF1, SDHB, SDHC, SDHD, VHL) | Paragangliom-Phäochromozytom- Syndrom, hereditäres (SDHA, SDHAF2, SDHB, SDHC, SDHD, RET, VHL, NF1; CNV: NF1, SDHB, SDHC, SDHD, VHL) | Molecular Diagnostics / PCR |
| Plasminogen Aktivator Inhibitor 1 (PAI1-Gen, dbSNP rs1799768) | Plasminogen Aktivator Inhibitor 1 (PAI1-Gen, dbSNP rs1799768) | Molecular Diagnostics / PCR |
| Polyposis, Juvenile (SMAD4, BMPR1A) | Polyposis, Juvenile (SMAD4, BMPR1A) | Molecular Diagnostics / PCR |
| Polyposis, MUTYH-assoziierte (MUTYH) | Polyposis, MUTYH-assoziierte (MUTYH) | Molecular Diagnostics / PCR |
| Polyposis, Proofreading-assoziierte (POLD1, POLE) | Polyposis, Proofreading-assoziierte (POLD1, POLE) | Molecular Diagnostics / PCR |
| Polyposis, Serratierte (MUTYH, PTEN, RNF43, GREM1) | Polyposis, Serratierte (MUTYH, PTEN, RNF43, GREM1) | Molecular Diagnostics / PCR |
| Polyposis, adenomatöse (APC, BMPR1A, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, STK11) | Polyposis, adenomatöse (APC, BMPR1A, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, SMAD4, STK11) | Molecular Diagnostics / PCR |
| Polyposis, gemischtes Syndrom (BMPR1A, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SMAD4, STK11) | Polyposis, gemischtes Syndrom (BMPR1A, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, RNF43, SMAD4, STK11) | Molecular Diagnostics / PCR |
| Porphyrie, akute intermittierende | Porphyrie, akute intermittierende | Molecular Diagnostics / PCR |
| Porphyrien, hereditäre – | Porphyrien, hereditäre – | Molecular Diagnostics / PCR |
| Prader Willi Syndrom | Prader-Willi-Syndrom: Methylierungsstatus und Deletions/Duplikationsanalyse | Molecular Diagnostics / PCR |
| Prothrombin (PTB-Gen, dbSNP rs179963) | Prothrombin (PTB-Gen, dbSNP rs179963) | Molecular Diagnostics / PCR |
| Schnellanalyse Familiäre | Schnellanalyse Familiäre | Molecular Diagnostics / PCR |
| Sequenzierung und CNV Cyp21A2 | Sequenzierung und CNV Cyp21A2 | Molecular Diagnostics / PCR |
| Sequenzierung: PTPN11 | Sequenzierung: PTPN11 | Molecular Diagnostics / PCR |
| Silver-Russel Syndrom | Silver-Russel-Syndrom | Molecular Diagnostics / PCR |
| Spinale Muskelatrophie | Spinale Muskelatrophie | Molecular Diagnostics / PCR |
| Temple-Syndrom | Temple-Syndrom | Molecular Diagnostics / PCR |
| Thalassämie, Beta | Thalassämie, Beta | Molecular Diagnostics / PCR |
| Thrombophilie-Paneldiagnostik (F2, F5, F9, HABP2, HRG, MTHFR, PLAT, PROC, PROS1, SERPINC1, SERPIND1, THBD) | Thrombophilie-Paneldiagnostik (F2, F5, F9, HABP2, HRG, MTHFR, PLAT, PROC, PROS1, SERPINC1, SERPIND1, THBD) | Molecular Diagnostics / PCR |
| Tuberöse Sklerose (TSC1, TSC2) | Tuberöse Sklerose (TSC1, TSC2) | Molecular Diagnostics / PCR |
| Tumorerkrankungen (BRCA1-Gen) OMIM# 113705 (BRCA2-Gen) OMIM# 600185 | Tumorerkrankungen (BRCA1-Gen) OMIM# 113705 (BRCA2-Gen) OMIM# 600185 | Molecular Diagnostics / PCR |
| Typ 1A, 1B, X1 (CMT) OMIM# | Typ 1A, 1B, X1 (CMT) OMIM# | Molecular Diagnostics / PCR |
| Whole Exome Sequencing (WES) | Whole Exome Sequencing (WES) | Molecular Diagnostics / PCR |
| Whole-Exome-Sequencing (Clinical Exome) | Whole-Exome-Sequencing (Clinical Exome) | Molecular Diagnostics / PCR |
| sensible (HNPP) OMIM# 162500 (Region: CMT/HNPP PMP22 17p12; MPZ 1q23.3; GJB1 Xq13.1) | sensible (HNPP) OMIM# 162500 (Region: CMT/HNPP PMP22 17p12; MPZ 1q23.3; GJB1 Xq13.1) | Molecular Diagnostics / PCR |
| young (HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1) | young (HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1) | Molecular Diagnostics / PCR |
| – Paneldiagnostik (BMP15, DIAPH2, ESR1, FIGLA, FOXL2, FSHR, GDF9, INHA, LHCGR, NOBOX, NR5A1, POF1B, SOHLH1 und STAG3 (<25kb Panel); CNV: FOXL2, NR5A1) | – Paneldiagnostik (BMP15, DIAPH2, ESR1, FIGLA, FOXL2, FSHR, GDF9, INHA, LHCGR, NOBOX, NR5A1, POF1B, SOHLH1 und STAG3 (<25kb Panel); CNV: FOXL2, NR5A1) | Molecular Diagnostics / PCR |
| (ACTC1, ACTN2, ANKRD1, CSRP3, | (ACTC1, ACTN2, ANKRD1, CSRP3, | Other |
| (CACNA1, CALM1, CALM3, CAV3, | (CACNA1, CALM1, CALM3, CAV3, | Other |
| (CYP21A2, HSD3B2, CYP11B1, | (CYP21A2, HSD3B2, CYP11B1, | Other |
| (Stufe 1: PiZ- / PiS-Genotypisierung Stufe 2: Sequenzierung SERPINA1) | OMIM# 167800 (Stufe 1: | Other |
| (Stufe 1: PiZ- / PiS-Genotypisierung Stufe 2: Sequenzierung SERPINA1) | CYP17A1) (Stufe 1: | Other |
| (limb girdle muscular dystrophy, | (limb girdle muscular dystrophy, | Other |
| ACTA1, CFL2, KBTBD13, KLHL40, | ACTA1, CFL2, KBTBD13, KLHL40, | Other |
| ATRX, SLC6A8) | ATRX, SLC6A8) | Other |
| Autismus-Spektrum-Störungen - Paneldiagnostik (Basispanel (<25kB) | Autismus-Spektrum-Störungen - Paneldiagnostik (Basispanel (<25kB) | Other |
| CACNA1C, CDKL5, FOXP1, MECP2, | CACNA1C, CDKL5, FOXP1, MECP2, | Other |
| CDKL5, FOXP1, MECP2, PTEN, TCF4, UBE3A, ZEB2) | CDKL5, FOXP1, MECP2, PTEN, TCF4, UBE3A, ZEB2) | Other |
| CPT2, ETFDH, GAA, GAA_CNV, | CPT2, ETFDH, GAA, GAA_CNV, | Other |
| DIN EN 310 (1993-08) | Myopathie, Nemaline (TyP1, 3-10: | Other |
| DNAJB6, HNRNPDL, LMNA, MYOT, TNPO3; CNV: CAV3, LMNA, MYOT); | DNAJB6, HNRNPDL, LMNA, MYOT, TNPO3; CNV: CAV3, LMNA, MYOT); | Other |
| IL36RN, LPIN2, MEFV, MVK, NLRC4, | IL36RN, LPIN2, MEFV, MVK, NLRC4, | Other |
| JPH2, MYBPC3, MYH7, MYL2, MYL3, | JPH2, MYBPC3, MYH7, MYL2, MYL3, | Other |
| KCNE1, KCNE2, KCNE3, KCNH2, | KCNE1, KCNE2, KCNE3, KCNH2, | Other |
| KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A ) | KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, SCN5A ) | Other |
| KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 (<25kb-Panel) CNV: | KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 (<25kb-Panel) CNV: | Other |
| KLHL41, LMOD3, TNNT1, TPM2, TPM3; Typ2: NEB) | KLHL41, LMOD3, TNNT1, TPM2, TPM3; Typ2: NEB) | Other |
| Komplettanalyse (erweiterte Diagnostik (>25kb): ABCA1, ABCG5, ABCG8, ACADM, ACADS, ACADVL, AGPAT2, AKT2, AMPD1 , ANGPTL3, ANGPTL4, APOA1, APOA2, APOA4, APOA5, APOB, APOC2, APOC3, | Komplettanalyse (erweiterte Diagnostik (>25kb): ABCA1, ABCG5, ABCG8, ACADM, ACADS, ACADVL, AGPAT2, AKT2, AMPD1 , ANGPTL3, ANGPTL4, APOA1, APOA2, APOA4, APOA5, APOB, APOC2, APOC3, | Other |
| LDHA, PFKM, PGAM2, PHKA1, | LDHA, PFKM, PGAM2, PHKA1, | Other |
| LGMD), autosomal dominant (CAV3, | LGMD), autosomal dominant (CAV3, | Other |
| Mentale Retardierung, X- Chromosomale (Basispanel (<25kB) | Mentale Retardierung, X- Chromosomale (Basispanel (<25kB) | Other |
| Muskeldystrophie, Duchenne / | Muskeldystrophie, Duchenne / | Other |
| Myopathie, Metabolische (AGL, | Myopathie, Metabolische (AGL, | Other |
| NLRP12, NLRP3, NOD2, PSMB8, PSTPIP1, TMEM173 (STING1), TNFRSF1A. (<25kb-Panel) CNV- Analyse: MEFV) | NLRP12, NLRP3, NOD2, PSMB8, PSTPIP1, TMEM173 (STING1), TNFRSF1A. (<25kb-Panel) CNV- Analyse: MEFV) | Other |
| OMIM# 163950 (Stufe 1: | OMIM# 163950 (Stufe 1: | Other |
| OMIM# 253300 (Region: SMN1 | OMIM# 253300 (Region: SMN1 | Other |
| PNPLA2, PYGM, SLC25A20; CNV: | PNPLA2, PYGM, SLC25A20; CNV: | Other |
| PTEN, TCF4, UBE3A und ZEB2. CNV: | PTEN, TCF4, UBE3A und ZEB2. CNV: | Other |
| Paneldiagnostik (ELANE, IL1RN, | Paneldiagnostik (ELANE, IL1RN, | Other |
| Stufe 2: Sequenzierung CYP11B1, HSD3B2, CYP17A1) | Stufe 2: Sequenzierung und CNV: | Other |
| DIN EN 14024 (2005-01) | OMIM# 614024 | Tensile / Compression / Flexural |
| DIN EN 13490 (2009-03) | OMIM# 613490 | Vibration / Shock |
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