Universitätsklinikum Erlangen Humangenetisches Institut Molekulargenetisches Labor

65 capabilities Accredited since July 2025 Verified Apr 2026 One of 3,039 in Germany

Details

Kussmaulallee 4
Erlangen 91054 , Germany

Accreditation

Active DAkkS D-ML-13297-07-01
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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

Active

Since

15 July 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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65 capabilities

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Test Capabilities (65)

Standard Reference Description Category
(ATM (NM_000051), BRCA1 (ATM (NM_000051), BRCA1 Biological / Microbiological
(NM_000038), BMPR1A (NM_000038), BMPR1A Biological / Microbiological
(NM_004329), CHEK2 (NM_004329), CHEK2 Biological / Microbiological
(NM_007294), BRCA2 (NM_007294), BRCA2 Biological / Microbiological
Azoospermie (AZFa,b, c Deletionen) Azoospermie (AZFa,b, c Deletionen) Biological / Microbiological
Familiäre Polyposis (APC Familiäre Polyposis (APC Biological / Microbiological
MLH1 (NM_000249), MSH2 MLH1 (NM_000249), MSH2 Biological / Microbiological
Neurofibromatose (NF1 Neurofibromatose (NF1 Biological / Microbiological
SPRED1 (NM_152594)) SPRED1 (NM_152594)) Biological / Microbiological
Tuberöse Sklerose (TSC1 Tuberöse Sklerose (TSC1 Biological / Microbiological
Hereditäre Motorisch-Sensible Hereditäre motorisch-sensible Elemental Analysis
Whole Exome Sequenzierung (WES) Whole Exome Sequenzierung (WES) Elemental Analysis
(HTT) Huntington (HTT) Food Safety Testing
FMR1) Fra(X)-Syndrom, FXTAS (FMR1) Food Safety Testing
(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_000059), BARD1 (NM_000059), BARD1 Molecular Diagnostics / PCR
(NM_000138), TGFBR1 (NM_000138), TGFBR1 Molecular Diagnostics / PCR
(NM_000179), PALB2 (NM_000179), PALB2 Molecular Diagnostics / PCR
(NM_000251), MSH6 (NM_000179), PMS2 (NM_000535), EPCAM (NM_000251), MSH6 (NM_000179), PMS2 (NM_000535), EPCAM Molecular Diagnostics / PCR
(NM_000314), RNF43 (NM_000314), RNF43 Molecular Diagnostics / PCR
(NM_000465), BRIP1 (NM_032043), CDH1 (NM_004360), CHEK2 (NM_000465), BRIP1 (NM_032043), CDH1 (NM_004360), CHEK2 Molecular Diagnostics / PCR
(NM_001005735), MSH3 (NM_001005735), MSH3 Molecular Diagnostics / PCR
(NM_001128425), NTHL1 (NM_001128425), NTHL1 Molecular Diagnostics / PCR
(NM_002439), MUTYH (NM_002439), MUTYH Molecular Diagnostics / PCR
(NM_002528), POLE (NM_006231), POLD1 (NM_001256849), PTEN (NM_002528), POLE (NM_006231), POLD1 (NM_001256849), PTEN 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_004612), TGFBR2 (NM_004612), TGFBR2 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_007194), MLH1 (NM_000249), MSH2 (NM_000251), MSH6 (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_017763), SMAD4 (NM_017763), SMAD4 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) Prader-Willi-Syndrom (PWS) Molecular Diagnostics / PCR
(PWS)WS/Angelman-Syndrom (AS) (PWS)WS/Angelman-Syndrom (AS) Molecular Diagnostics / PCR
Brust- und Eierstockkrebs Familiärer Brust- und Eierstockkrebs Molecular Diagnostics / PCR
DIN EN 6270 OMIM#176270 Molecular Diagnostics / PCR
Deletionsanalyse SNRPN-Region Deletionsanalyse SNRPN-Region 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
Hereditäre Motorischen Hereditäre Motorischen Molecular Diagnostics / PCR
Hereditäres nicht polypöses Hereditäres nicht-polypöses Molecular Diagnostics / PCR
Mesomelie OMIM#249700 Mesomelie OMIM#249700 Molecular Diagnostics / PCR
Mikrodeletion Xp22.33, SHOX Mikrodeletion Xp22.33, SHOX Molecular Diagnostics / PCR
Neuropathie Typ 1 (HMSN1, CMT1A), OMIM#118220 Neuropathie Typ 1 (HMSN1, CMT1A), OMIM#118220 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
dysproportionierter Kleinwuchs dysproportionierter Kleinwuchs Molecular Diagnostics / PCR
unklarer Kleinwuchs unklarer Kleinwuchs Molecular Diagnostics / PCR
(NM_000368), TSC2 (NM_000548)) (NM_000368), TSC2 (NM_000548)) Other
(NM_000546)) (NM_000546)) Other
(NM_002354)) (NM_002354)) Other
(NM_005359), STK11 (NM_00455), GREM1 (NM_013372)) (NM_005359), STK11 (NM_00455), GREM1 (NM_013372)) Other
(NM_006270)) (NM_006270)) Other
(PTPN11 (NM_002834), SOS1 (PTPN11 (NM_002834), SOS1 Other
11q13 Angelman-Syndrom (15q11-q13 Other
Marfan-Syndrom (FBN1 Marfan-Syndrom (FBN1 Other
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