Universitätsklinikum Jena Institut für Humangenetik

59 capabilities Accredited since May 2025 Verified Apr 2026 One of 3,039 in Germany

Details

Am Klinikum 1
Jena 07747 , Germany

Accreditation

Active DAkkS D-ML-13144-05-00
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Focuses on molecular human genetics and cytogenetics testing alongside transfusion medicine services, employing molecular techniques such as methylation-sensitive MLPA and MS-MLPA on blood and DNA samples to diagnose genetic conditions.

Accreditation Details

Accreditation Body

DAkkS

Number

D-ML-13144-05-00

Status

Active

Since

02 May 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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59 capabilities

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Test Capabilities (59)

Standard Reference Description Category
Angeborener Chromosomensatz angeborener Chromosomensatz Biocompatibility (ISO 10993)
Erworbener Chromosomensatz erworbener Chromosomensatz Biocompatibility (ISO 10993)
(RB1) Retinoblastom (RB1) Elemental Analysis
Cystische Fibrose (CFTR) Cystische Fibrose (CFTR) Elemental Analysis
HLA-DPA-Locus HLA-DPA-Locus Elemental Analysis
Enterococcus ssp. Multilocus Enterococcus ssp. Multilocus Food Safety Testing
HLA-Klasse I, II HLA-Klasse I, II Food Safety Testing
(APC, MUTYH) (APC, MUTYH) Molecular Diagnostics / PCR
(CML, ALL) (CML, ALL) Molecular Diagnostics / PCR
(EPCAM, MLH1, MSH2, MSH6, PMS2) Lynch-Syndrom/ HNPCC (EPCAM, MLH1, MSH2, MSH6, PMS2) Molecular Diagnostics / PCR
(STK11) Peutz-Jeghers-Syndrom (STK11) Molecular Diagnostics / PCR
18, 21 Chromosomen 13, 18, 21 Molecular Diagnostics / PCR
Abortdiagnostik Abortdiagnostik Molecular Diagnostics / PCR
Angeborener Chromsomensatz Angeborener Chromsomensatz Molecular Diagnostics / PCR
Ausschluss/ Nachweis mütterlicher Ausschluss/ Nachweis mütterlicher Molecular Diagnostics / PCR
B*27; B*57:01 B*27; B*57:01 Molecular Diagnostics / PCR
BCR ::ABL1 ) BCR::ABL Fusion Molecular Diagnostics / PCR
Brust- und Eierstockkrebs (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Brust- und Eierstockkrebs (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Molecular Diagnostics / PCR
Cowden-Syndrom (PTEN) Cowden-Syndrom (PTEN) Molecular Diagnostics / PCR
Cystische Fibrose Cystische Fibrose: Screening der Molecular Diagnostics / PCR
DPYD-Defizienz / 5-FU-Toxizität DPYD-Defizienz / 5-FU-Toxizität Molecular Diagnostics / PCR
Einzelantigene molekulargenetisch Einzelantigene molekulargenetisch Molecular Diagnostics / PCR
Fragiles X-Syndrom (FMR1) Fragiles X-Syndrom (FMR1) Molecular Diagnostics / PCR
HLA-A-Locus HLA-A-Locus Molecular Diagnostics / PCR
HLA-B-Locus HLA-B-Locus Molecular Diagnostics / PCR
HLA-C-Locus HLA-C-Locus Molecular Diagnostics / PCR
HLA-DPA1-Locus HLA-DPA1-Locus Molecular Diagnostics / PCR
HLA-DPB1 Locus HLA-DPB1-Locus Molecular Diagnostics / PCR
HLA-DQA1-Locus HLA-DQA1-Locus Molecular Diagnostics / PCR
HLA-DQB1-Locus HLA-DQB1-Locus Molecular Diagnostics / PCR
HLA-DRB1 -Locus HLA-DRB1-Locus Molecular Diagnostics / PCR
HLA-DRB3-Locus HLA-DRB3-Locus Molecular Diagnostics / PCR
HLA-DRB3/4/5-Locus HLA-DRB3/4/5-Locus Molecular Diagnostics / PCR
HLA-DRB4-Locus HLA-DRB4-Locus Molecular Diagnostics / PCR
HLA-DRB5-Locus HLA-DRB5-Locus Molecular Diagnostics / PCR
Marfan Syndrom (FBN1, TGFBR1, TGFBR2) Marfan Syndrom (FBN1, TGFBR1, TGFBR2) Molecular Diagnostics / PCR
Neurofibromatose (NF1, NF2) Neurofibromatose (NF1, NF2) Molecular Diagnostics / PCR
Noonan Syndrom / RASopathien Noonan-Syndrom/Rasopathien Molecular Diagnostics / PCR
Pankreaskarzinom (APC, ATM, BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53) Pankreaskarzinom (APC, ATM, BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53) Molecular Diagnostics / PCR
Thrombozyten-Antigene Thrombozytenantigene Molecular Diagnostics / PCR
Thrombozytenantigene (HPA), molekulargenetisch Thrombozytenantigene (HPA), molekulargenetisch Molecular Diagnostics / PCR
Uniparentale Disomien der Uniparentale Disomien der Molecular Diagnostics / PCR
Whole Exome Sequencing (WES) Whole Exome Sequencing (WES) Molecular Diagnostics / PCR
Whole Genome Sequencing (WGS) Whole Genome Sequencing (WGS) Molecular Diagnostics / PCR
Zellen im pränatalen Zellen im pränatalen Molecular Diagnostics / PCR
häufigsten Mutationen (CFTR) häufigsten Mutationen (CFTR) Molecular Diagnostics / PCR
like Syndrom (TP53, CHEK2) like Syndrom (TP53, CHEK2) Molecular Diagnostics / PCR
molekulargenetisch molekulargenetisch Molecular Diagnostics / PCR
pränataler Schnelltest (STR-basiert) pränataler Schnelltest (STR-basiert) Molecular Diagnostics / PCR
(CFTR) (CFTR) Other
(DPYD: dbSNP rs3918290, rs55886062, rs67376798, rs56038477) Defizienz (DPYD: dbSNP Other
ALL) ALL) Other
Adenomatöse Polyposis coli (APC Adenomatöse Polyposis coli (APC Other
Angelmann-Syndrom (15q11-q13 Angelmann-Syndrom (15q11-q13 Other
Chorea Huntington (Bestimmung Chorea Huntington (Bestimmung Other
NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2) NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2) Other
Prader-Willi-Syndrom (15q11-q13 Prader-Willi-Syndrom (15q11-q13 Other
RAF1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2) RAF1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2) Other
Region) Region) Other
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