ScopeUniversitätsmedizin der Johannes Gutenberg-Universität Mainz Institut für Humangenetik, molekulargenetisches Labor
115 capabilities
Accredited since September 2025
Verified Sep 2026
One of 3,103 in Germany
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Details
Langenbeckstraße 1
Mainz 55131 , Germany
Mainz 55131 , Germany
Accreditation
Active
DAkkS
D-ML-13258-01-01
Specialises in molecular and cytogenetic analysis of human genetic material, including chromosome analysis via SNP array and molecular-biological investigations on blood, tissue biopsies, and amniotic fluid samples.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-13258-01-01
Status
ActiveSince
04 September 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 (115)
| Standard Reference | Description | Category |
|---|---|---|
| Angeborener Chromosomensatz | angeborener Chromosomensatz | Biocompatibility (ISO 10993) |
| BRCA-Panel; BRCA1, BRCA2 | BRCA-Panel; BRCA1, BRCA2 | Elemental Analysis |
| Brust- u. Ovarialkrebs, hereditär | Brust- u. Ovarialkrebs, hereditär | Elemental Analysis |
| H19, KCNQ1OT1 | H19, KCNQ1OT1 | Elemental Analysis |
| PTPN11 | PTPN11 | Elemental Analysis |
| (G11778A) und MTND6P (T14484C) | (G11778A) und MTND6P (T14484C) | Molecular Diagnostics / PCR |
| (GUSB ) | (GUSB ) | Molecular Diagnostics / PCR |
| (HSP): ATL1 | REEP1, SPG7 (HSP) | Molecular Diagnostics / PCR |
| (NAGLU ); Typ IV B (GLB1 ); Typ | (NAGLU ); Typ IV B (GLB1 ); Typ | Molecular Diagnostics / PCR |
| APC, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE,PTCH1, SMARCE1, SUFU, TP53, NF1, NF2, TSC1, TSC2 | APC, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE,PTCH1, SMARCE1, SUFU, TP53, NF1, NF2, TSC1, TSC2 | Molecular Diagnostics / PCR |
| APC2, NFIX, NSD1 | APC2, NFIX, NSD1 | Molecular Diagnostics / PCR |
| APP | APP | Molecular Diagnostics / PCR |
| AZF | Infertilität/AZF | Molecular Diagnostics / PCR |
| Aicardi-Goutières Syndrom | Aicardi-Goutières-Syndrom | Molecular Diagnostics / PCR |
| Angelman Syndrom | Deletion; Angelman-Syndrom | Molecular Diagnostics / PCR |
| Angelman Syndrom | Prader Willi-, Angelman-Syndrom | Molecular Diagnostics / PCR |
| Angelman Syndrom | Prader Willi Angelman Syndrom | Molecular Diagnostics / PCR |
| Ataxie-Syndrom (FXTAS); Fragiles | Ataxie-Syndrom (FXTAS); Fragiles | Molecular Diagnostics / PCR |
| Atrophie | SMN1; Spinale Muskelatrophie | Molecular Diagnostics / PCR |
| Atrophie | SMN1-Gen, Spinale Muskelatrophie | Molecular Diagnostics / PCR |
| Autosomal dominante polyzystische | Autosomal dominante polyzystische | Molecular Diagnostics / PCR |
| Becker | Typ Duchenne/Becker | Molecular Diagnostics / PCR |
| CFHR5 | CFHR5 | Molecular Diagnostics / PCR |
| CHEK2, TP53 | CHEK2, TP53 | Molecular Diagnostics / PCR |
| CREBBP, EP300 | CREBBP, EP300 | Molecular Diagnostics / PCR |
| Chorea Huntington (HD)-HTT | Chorea Huntington (HD)-HTT | Molecular Diagnostics / PCR |
| Crigler-Najjar-Syndrom | Crigler-Najjar-Syndrom | Molecular Diagnostics / PCR |
| DMD | DMD | Molecular Diagnostics / PCR |
| DRPLA/ATN1, SCA1,2,3,6,7, SCA17/TBP, FRDA, FXN, FMR1 | DRPLA/ATN1, SCA1,2,3,6,7, SCA17/TBP, FRDA, FXN, FMR1 | Molecular Diagnostics / PCR |
| DiGeorge-Syndrom (22q11.2) | DiGeorge-Syndrom (22q11.2) | Molecular Diagnostics / PCR |
| Differentialdiagnosen: SCN1A | Syndrom - Differentialdiagnosen | Molecular Diagnostics / PCR |
| Episoden | Episoden | Molecular Diagnostics / PCR |
| F2: dbSNP rs1799963 | SMARCB1, LZTR1, NF2 | Molecular Diagnostics / PCR |
| FBN1 | FBN1 | Molecular Diagnostics / PCR |
| FMR1 | Repeatanlyse FMR1 | Molecular Diagnostics / PCR |
| Familiäres Silver-Russell-Syndrom | Familiäres Silver-Russell-Syndrom | Molecular Diagnostics / PCR |
| GDF1 | GDF1 | Molecular Diagnostics / PCR |
| GJB2, GJB6 | GJB2, GJB6 | Molecular Diagnostics / PCR |
| GJB6, STRC, OTOA | GJB6, STRC, OTOA | Molecular Diagnostics / PCR |
| GRB10 | GRB10 | Molecular Diagnostics / PCR |
| H19, LIT1 | H19, LIT1 | Molecular Diagnostics / PCR |
| H19, MEST | H19, MEST | Molecular Diagnostics / PCR |
| Hereditäre Schwannomatose | Hereditäre Schwannomatose | Molecular Diagnostics / PCR |
| Hereditäre spastische Paraplegie | Hereditäre spastische Paraplegie | Molecular Diagnostics / PCR |
| Holoprosenzephalie | Holoprosenzephalie | Molecular Diagnostics / PCR |
| KRAS; Noonan-Syndrom | KRAS; Noonan-Syndrom | Molecular Diagnostics / PCR |
| Kagami-Ogata Syndrom | Kagami-Ogata-Syndrom | Molecular Diagnostics / PCR |
| Li Fraumeni Syndrom | Li-Fraumeni-Syndrom | Molecular Diagnostics / PCR |
| Lissenzephalie | Lissenzephalie | Molecular Diagnostics / PCR |
| MECP2 | MECP2 | Molecular Diagnostics / PCR |
| MECP2 -Duplikationssyndrom | MECP2 -Duplikationssyndrom | Molecular Diagnostics / PCR |
| MECP2-Gen, RETT Syndrom | MECP2-Gen, RETT Syndrom | Molecular Diagnostics / PCR |
| MEG3 | MEG3 | Molecular Diagnostics / PCR |
| MEST | MEST | Molecular Diagnostics / PCR |
| MID1 | MID1 | Molecular Diagnostics / PCR |
| MTND1P (G3460A), MTND4P | MTND1P (G3460A), MTND4P | Molecular Diagnostics / PCR |
| MTRNR1 | MTRNR1 | Molecular Diagnostics / PCR |
| Marfan Syndrom | Marfan-Syndrom: FBN1, TGFBR1, TGFBR2, ACTA2, COL3A1, MYH11, MYLK, SMAD3, TGFB2 | Molecular Diagnostics / PCR |
| Maternal vererbter Diabetes | Maternal vererbter Diabetes | Molecular Diagnostics / PCR |
| MeCP2; Rett-Syndrom | MeCP2; Rett-Syndrom | Molecular Diagnostics / PCR |
| Mikrodeletionsscreening | Mikrodeletionsscreening | Molecular Diagnostics / PCR |
| Morbus Meulengracht UGT1A1 | Morbus Meulengracht UGT1A1 | Molecular Diagnostics / PCR |
| Mukopolysaccharidosen TypI | Mukopolysaccharidosen TypI | Molecular Diagnostics / PCR |
| Muskelatrophie Typ Kennedy | Muskelatrophie Typ Kennedy | Molecular Diagnostics / PCR |
| Mütterliche Kontamination (STR) | Mütterliche Kontamination (STR) | Molecular Diagnostics / PCR |
| NESPAS, NESP55, PEG3, SNRPN | NESPAS, NESP55, PEG3, SNRPN | Molecular Diagnostics / PCR |
| NF1, NF2, SPRED1 | NF1, NF2, SPRED1 | Molecular Diagnostics / PCR |
| NF1; V. a. Neurofibromatose | NF1; V. a. Neurofibromatose | Molecular Diagnostics / PCR |
| NOONAN Syndrom | SOS1; Noonan-Syndrom | Molecular Diagnostics / PCR |
| NOONAN Syndrom | SOS1-Gen, Noonan Syndrom | Molecular Diagnostics / PCR |
| NSD1; Sotos-Syndrom | NSD1; Sotos-Syndrom | Molecular Diagnostics / PCR |
| Opitz-Syndrom: | Smith-Lemli-Opitz-Syndrom | Molecular Diagnostics / PCR |
| PAX6 | PAX6 | Molecular Diagnostics / PCR |
| PKD2 | PKD2 | Molecular Diagnostics / PCR |
| PMP22 | PMP22 | Molecular Diagnostics / PCR |
| PRKN, PINK1, SNCAM | PRKN, PINK1, SNCAM | Molecular Diagnostics / PCR |
| PTCH1 | PTCH1 | Molecular Diagnostics / PCR |
| Pankreatitis, hereditär | Pankreatitis, hereditär | Molecular Diagnostics / PCR |
| SHH, ZIC2, SIX3, GLI2, TGIF1 | SHH, ZIC2, SIX3, GLI2, TGIF1 | Molecular Diagnostics / PCR |
| SHOX | SHOX | Molecular Diagnostics / PCR |
| SMN1, SMN2 | SMN1, SMN2 | Molecular Diagnostics / PCR |
| Spingolipidosen Typ 2 (HEXB ) | Spingolipidosen Typ 2 (HEXB ) | Molecular Diagnostics / PCR |
| Subtelomerscreening | Subtelomerscreening | Molecular Diagnostics / PCR |
| TREX1, SAMHD1 | TREX1, SAMHD1 | Molecular Diagnostics / PCR |
| TSC1-Gen, Tuberöse Sklerose | TSC1-Gen, Tuberöse Sklerose | Molecular Diagnostics / PCR |
| UBE3A | UBE3A | Molecular Diagnostics / PCR |
| VANGL1, VANGL2 | VANGL1, VANGL2 | Molecular Diagnostics / PCR |
| Whole Exome Sequencing | Whole Exome Sequencing | Molecular Diagnostics / PCR |
| X-Inaktivierungstatus (HUMARA) | X-Inaktivierungstatus (HUMARA) | Molecular Diagnostics / PCR |
| mellitus mit Schwerhörigkeit | mellitus mit Schwerhörigkeit | Molecular Diagnostics / PCR |
| (patUPD14): | (patUPD14): | Other |
| Alzheimer/Demenz: | Alzheimer/Demenz: | Other |
| Angeborener Herzfehler Typ 6: | Angeborener Herzfehler Typ 6: | Other |
| Aniridie: | Aniridie: | Other |
| Beckwith-Wiedemann Syndrom | Beckwith-Wiedemann-Syndrom: | Other |
| CMT1A, HNPP: | CMT1A, HNPP: | Other |
| DMD (Muskeldystrophie Typ | DMD (Muskeldystrophie Typ | Other |
| Dravet-Syndrom und | Dravet-Syndrom und | Other |
| Gorlin-Goltz-Syndrom | Gorlin-Goltz-Syndrom: | Other |
| Idiopathischer Kleinwuchs: | Idiopathischer Kleinwuchs: | Other |
| Komplementdefekte (Neisseria): | Komplementdefekte (Neisseria): | Other |
| Neuralrohrdefekte: | Neuralrohrdefekte: | Other |
| Nierenerkrankung (ADPKD): PKD1, | Nierenerkrankung (ADPKD): PKD1, | Other |
| Parkinson | Parkinson: | Other |
| Prader Willi Syndrom | Prader-Willi-Syndrom: | Other |
| Repeat-Analyse Chorea Huntington: | Repeat-Analyse Chorea Huntington: | Other |
| Repeatanalyse: | Repeatanalyse: | Other |
| Rett-Syndrom Sequenzierung: | Rett-Syndrom Sequenzierung: | Other |
| Rubinstein-Taybi Syndrom | Rubinstein-Taybi-Syndrom: | Other |
| Schwerhörigkeit, mitochondrial: | Schwerhörigkeit, mitochondrial: | Other |
| Schwerhörigkeit, nicht syndromal | Schwerhörigkeit, nicht-syndromal: | Other |
| Spots: | Serum/plasma | Spots | Other |
| Synrom: | Synrom: | Other |
| schwere Oligozoospermie: | schwere Oligozoospermie: | Other |
| *) 1 bar; 2 bar | *) 1 bar; 2 bar | Temperature / Pressure |
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