ScopeUniversitätsklinikum Erlangen Humangenetisches Institut Molekulargenetisches Labor
47 capabilities
Accredited since July 2025
Verified Oct 2026
One of 3,209 in Germany
Send one structured enquiry and we chase the reply for you. No cold email, no chasing.
Details
Kussmaulallee 4
Erlangen 91054 , Germany
Erlangen 91054 , Germany
Accreditation
Active
DAkkS
D-ML-13297-07-01
www.humangenetik.uk-erlangen.de/aerzte-und-zuwe...
Prefer to enquire through us? Send an enquiry
Specializes in molecular genetic diagnostics using PCR and fragment analysis on blood, saliva, and buccal swabs for detection of genetic variations and deletions, with flexibility for method modification and development in human genetics.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-13297-07-01
Status
ActiveSince
15 July 2025
Accreditation is granted under EU Regulation 765/2008 and assessed against ISO/IEC 17025. Data sourced from official DAkkS records.
Download Scope PDFAdditional scope documents
Test Capabilities (47)
| Standard Reference | Description | Category |
|---|---|---|
| (NM_000038), BMPR1A | (NM_000038), BMPR1A | Biological / Microbiological |
| Azoospermie (AZFa,b, c Deletionen) | Azoospermie (AZFa,b, c Deletionen) | Biological / Microbiological |
| Hereditäre Motorisch-Sensible | Hereditäre motorisch-sensible | Elemental Analysis |
| Whole Exome Sequenzierung (WES) | Whole Exome Sequenzierung (WES) | Elemental Analysis |
| (ADNP, AHDC1, ALG13, ANKRD11, ARID1B, ASXL1, ASXL3, AUTS2, BCL11A, BRAF, CASK, CDK13, CDKL5, CHAMP1, CHD2, CHD4, CHD8, CNKSR2, CNOT3, COL4A3BP, CREBBP, CSNK2A1, CTCF, CTNNB1, DDX3X, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EP300, FOXG1, FOXP1, GABRB3, GATAD2B, GNAI1, GNAO1, GRIN2B, HDAC8, HNRNPU, IQSEC2, ITPR1, KANSL1, KAT6A, KAT6B, KCNH1, KCNQ2, KCNQ3, KDM5B, KIF1A, KMT2A, KMT5B, MECP2, MED13L, MEF2C, MSL3, MYT1L, NAA10, NFIX, NSD1, PACS1, PDHA1, POGZ, PPM1D, PPP2R1A, PPP2R5D, PTEN, PTPN11, PUF60, PURA, QRICH1, SATB2, SCN1A, SCN2A, SCN8A, SET, SETD5, SLC35A2, SLC6A1, SMAD4, SMC1A, SYNGAP1, TBL1XR1, TCF20, TCF4, TRIO, USP9X, WAC, WDR45, ZBTB18, ZC4H2, ZMYND11) | (ADNP, AHDC1, ALG13, ANKRD11, ARID1B, ASXL1, ASXL3, AUTS2, BCL11A, BRAF, CASK, CDK13, CDKL5, CHAMP1, CHD2, CHD4, CHD8, CNKSR2, CNOT3, COL4A3BP, CREBBP, CSNK2A1, CTCF, CTNNB1, DDX3X, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EP300, FOXG1, FOXP1, GABRB3, GATAD2B, GNAI1, GNAO1, GRIN2B, HDAC8, HNRNPU, IQSEC2, ITPR1, KANSL1, KAT6A, KAT6B, KCNH1, KCNQ2, KCNQ3, KDM5B, KIF1A, KMT2A, KMT5B, MECP2, MED13L, MEF2C, MSL3, MYT1L, NAA10, NFIX, NSD1, PACS1, PDHA1, POGZ, PPM1D, PPP2R1A, PPP2R5D, PTEN, PTPN11, PUF60, PURA, QRICH1, SATB2, SCN1A, SCN2A, SCN8A, SET, SETD5, SLC35A2, SLC6A1, SMAD4, SMC1A, SYNGAP1, TBL1XR1, TCF20, TCF4, TRIO, USP9X, WAC, WDR45, ZBTB18, ZC4H2, ZMYND11) | Molecular Diagnostics / PCR |
| (Clinical Exome) SNV, indels | (Clinical Exome) SNV, indels | Molecular Diagnostics / PCR |
| (NM_000138), TGFBR1 (NM_004612), TGFBR2 | (NM_000138), TGFBR1 (NM_004612), TGFBR2 | Molecular Diagnostics / PCR |
| (NM_000179), PALB2 | (NM_000179), PALB2 | Molecular Diagnostics / PCR |
| (NM_002878), STK11 (NM_000455), SMARCA4 (NM_003072), TP53 | (NM_002878), STK11 (NM_000455), SMARCA4 (NM_003072), TP53 | Molecular Diagnostics / PCR |
| (NM_002880), BRAF (NM_004333), RIT1 (NM_006912), SOS2 | (NM_002880), BRAF (NM_004333), RIT1 (NM_006912), SOS2 | Molecular Diagnostics / PCR |
| (NM_004329), CHEK2 (NM_001005735), MSH3 (NM_002439), MUTYH (NM_001128425), NTHL1 (NM_002528), POLE (NM_006231), POLD1 (NM_001256849), PTEN | (NM_004329), CHEK2 (NM_001005735), MSH3 (NM_002439), MUTYH (NM_001128425), NTHL1 (NM_002528), POLE (NM_006231), POLD1 (NM_001256849), PTEN | Molecular Diagnostics / PCR |
| (NM_005633), KRAS (NM_033360), NRAS (NM_002524), RAF1 | (NM_005633), KRAS (NM_033360), NRAS (NM_002524), RAF1 | Molecular Diagnostics / PCR |
| (NM_006939), LZTR1 (NM_006767), HRAS (NM_176795), SHOC2 | (NM_006939), LZTR1 (NM_006767), HRAS (NM_176795), SHOC2 | Molecular Diagnostics / PCR |
| (NM_007294), BRCA2 (NM_000059), BARD1 (NM_000465), BRIP1 (NM_032043), CDH1 (NM_004360), CHEK2 (NM_007194), MLH1 (NM_000249), MSH2 (NM_000251), MSH6 | (NM_007294), BRCA2 (NM_000059), BARD1 (NM_000465), BRIP1 (NM_032043), CDH1 (NM_004360), CHEK2 (NM_007194), MLH1 (NM_000249), MSH2 (NM_000251), MSH6 | Molecular Diagnostics / PCR |
| (NM_007373), CBL (NM_005188), MAP2K1 (NM_002755), MAP2K2 | (NM_007373), CBL (NM_005188), MAP2K1 (NM_002755), MAP2K2 | Molecular Diagnostics / PCR |
| (NM_024675), PMS2 (NM_000535), PTEN (NM_000314), RAD51C | (NM_024675), PMS2 (NM_000535), PTEN (NM_000314), RAD51C | Molecular Diagnostics / PCR |
| (NM_030662), SPRED1 | (NM_030662), SPRED1 | Molecular Diagnostics / PCR |
| (NM_058216), RAD51D | (NM_058216), RAD51D | Molecular Diagnostics / PCR |
| (NM_152594), MTOR (NM_004958), RASA2 (NM_006506), RRAS | (NM_152594), MTOR (NM_004958), RASA2 (NM_006506), RRAS | Molecular Diagnostics / PCR |
| (PWS) | (PWS) | Molecular Diagnostics / PCR |
| 15q11-q13 | 15q11-q13 | Molecular Diagnostics / PCR |
| Angelman-Syndrom (AS) | Angelman-Syndrom (AS): UBE3A | Molecular Diagnostics / PCR |
| Brust- und Eierstockkrebs | Familiärer Brust- und Eierstockkrebs | Molecular Diagnostics / PCR |
| Chorea Huntington (MIM#143100, HTT) | Chorea Huntington (MIM#143100, HTT) | Molecular Diagnostics / PCR |
| DIN EN 6270 | OMIM#176270 | Molecular Diagnostics / PCR |
| Drucklähmungen (HNPP), OMIM#162500 PMP22- Deletion | Drucklähmungen (HNPP), OMIM#162500 PMP22- Deletion | Molecular Diagnostics / PCR |
| Exom, Entwicklungsverzögerung | Exom, Entwicklungsverzögerung | Molecular Diagnostics / PCR |
| Familiäre Polyposis (APC | Familiäre Polyposis | Molecular Diagnostics / PCR |
| Fragiles-X-Syndrom (MIM#300624, FMR1) | Fragiles-X-Syndrom (MIM#300624, FMR1) | Molecular Diagnostics / PCR |
| Hereditäre Motorischen | Hereditäre Motorischen | Molecular Diagnostics / PCR |
| Hereditäres nicht polypöses | Hereditäres nicht-polypöses | Molecular Diagnostics / PCR |
| Marfan-Syndrom (FBN1 | Marfan-Syndrom (FBN1) | Molecular Diagnostics / PCR |
| Mikrodeletion Xp22.33, SHOX | Mikrodeletion Xp22.33, SHOX | Molecular Diagnostics / PCR |
| Neurofibromatose (NF1 (NM_000267), NF2 (NM_181832), SPRED1 (NM_152594)) | Neurofibromatose (NF1 (NM_000267), NF2 (NM_181832), SPRED1 (NM_152594)) | Molecular Diagnostics / PCR |
| Neuropathie Typ 1 (HMSN1, CMT1A), OMIM#118220 | Neuropathie Typ 1 (HMSN1, CMT1A), OMIM#118220 | Molecular Diagnostics / PCR |
| Neuropathie mit Neigung zu | Neuropathie mit Neigung zu | Molecular Diagnostics / PCR |
| Noonan Syndrom / RASopathien | Noonan-Syndrom/Rasopathien | Molecular Diagnostics / PCR |
| OMIM#105830 | OMIM#105830 | Molecular Diagnostics / PCR |
| OMIM#300582, Leri-Weill-Syndrom OMIM#127300 | OMIM#300582, Leri-Weill-Syndrom OMIM#127300 | Molecular Diagnostics / PCR |
| PMP22- Duplikation | PMP22- Duplikation | Molecular Diagnostics / PCR |
| Prader-Willi-Syndrom-Syndrom | Prader-Willi-Syndrom-Syndrom | Molecular Diagnostics / PCR |
| Tuberöse Sklerose (TSC1 (NM_000368), TSC2 (NM_000548)) | Tuberöse Sklerose (TSC1 (NM_000368), TSC2 (NM_000548)) | Molecular Diagnostics / PCR |
| dysproportionierter Kleinwuchs mit Mesomelie OMIM#249700 | dysproportionierter Kleinwuchs mit Mesomelie OMIM#249700 | Molecular Diagnostics / PCR |
| unklarer Kleinwuchs | unklarer Kleinwuchs | Molecular Diagnostics / PCR |
| (NM_000314), RNF43 (NM_017763), SMAD4 (NM_005359), STK11 (NM_00455), GREM1 (NM_013372)) | (NM_000314), RNF43 (NM_017763), SMAD4 (NM_005359), STK11 (NM_00455), GREM1 (NM_013372)) | Other |
| Methylierungsstatus und Deletionsanalyse SNRPN-Region in | Methylierungsstatus und Deletionsanalyse SNRPN-Region in | Other |
| kolorektales Karzinom (HNPCC), MLH1 (NM_000249), MSH2 (NM_000251), MSH6 (NM_000179), PMS2 (NM_000535), EPCAM (NM_002354)) | kolorektales Karzinom (HNPCC), MLH1 (NM_000249), MSH2 (NM_000251), MSH6 (NM_000179), PMS2 (NM_000535), EPCAM (NM_002354)) | Other |
Send an Enquiry
Request a quote, ask about capacity, or discuss your testing requirements directly with this lab.