ScopeUniversitätsklinikum Jena Institut für Humangenetik
59 capabilities
Accredited since May 2025
Verified May 2026
One of 3,188 in Germany
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Details
Am Klinikum 1
Jena 07747 , Germany
Jena 07747 , Germany
Accreditation
Active
DAkkS
D-ML-13144-05-00
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
ActiveSince
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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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 |
| (CFTR) | (CFTR) | 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 |
| (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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