ScopeUniversitätsmedizin der Johannes Gutenberg-Universität Mainz Institut für Humangenetik, molekulargenetisches Labor
82 capabilities
Accredited since September 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
Langenbeckstraße 1
Mainz 55131 , Germany
Mainz 55131 , Germany
Accreditation
Active
DAkkS
D-ML-13258-01-01
www.unimedizin-mainz.de/humangenetik/diagnostik...
Prefer to enquire through us? Send an enquiry
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 (82)
| Standard Reference | Description | Category |
|---|---|---|
| Angeborener Chromosomensatz | angeborener Chromosomensatz | Biocompatibility (ISO 10993) |
| BRCA-Panel; BRCA1, BRCA2 | BRCA-Panel; BRCA1, BRCA2 | Elemental Analysis |
| H19, KCNQ1OT1 | H19, KCNQ1OT1 | Elemental Analysis |
| PTPN11 | PTPN11 | Elemental Analysis |
| (G11778A) und MTND6P (T14484C) | (G11778A) und MTND6P (T14484C) | Molecular Diagnostics / PCR |
| (HSP): ATL1 | (HSP): ATL1 | 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 | AZF | Molecular Diagnostics / PCR |
| Ataxie-Syndrom (FXTAS); Fragiles | Ataxie-Syndrom (FXTAS); Fragiles | Molecular Diagnostics / PCR |
| Autosomal dominante polyzystische | Autosomal dominante polyzystische | Molecular Diagnostics / PCR |
| CHEK2, TP53 | CHEK2, TP53 | Molecular Diagnostics / PCR |
| CREBBP, EP300 | CREBBP, EP300 | Molecular Diagnostics / PCR |
| DMD | DMD | Molecular Diagnostics / PCR |
| DiGeorge-Syndrom (22q11.2) | DiGeorge-Syndrom (22q11.2) | Molecular Diagnostics / PCR |
| Differentialdiagnosen: SCN1A | Differentialdiagnosen: SCN1A | Molecular Diagnostics / PCR |
| Episoden | Episoden | Molecular Diagnostics / PCR |
| F2: dbSNP rs1799963 | SMARCB1, LZTR1, NF2 | Molecular Diagnostics / PCR |
| FBN1 | FBN1 | Molecular Diagnostics / PCR |
| FMR1 | FMR1 | 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 |
| HTT | HTT | Molecular Diagnostics / PCR |
| Hereditäre spastische Paraplegie | Hereditäre spastische Paraplegie | Molecular Diagnostics / PCR |
| Kagami-Ogata Syndrom | Kagami-Ogata-Syndrom | Molecular Diagnostics / PCR |
| Lissenzephalie | Lissenzephalie | Molecular Diagnostics / PCR |
| MECP2 | MECP2 | Molecular Diagnostics / PCR |
| MECP2 -Duplikationssyndrom | MECP2 -Duplikationssyndrom | 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 |
| Maternal vererbter Diabetes | Maternal vererbter Diabetes | Molecular Diagnostics / PCR |
| Mikrodeletionsscreening | Mikrodeletionsscreening | Molecular Diagnostics / PCR |
| Morbus Meulengracht UGT1A1 | Morbus Meulengracht UGT1A1 | Molecular Diagnostics / PCR |
| Mukopolysaccharidosen TypI (IDUA ); Typ III A (SGSH ); TypIII B (NAGLU ); Typ IV B (GLB1 ); Typ VII (GUSB ) | Mukopolysaccharidosen TypI (IDUA ); Typ III A (SGSH ); TypIII B (NAGLU ); Typ IV B (GLB1 ); Typ VII (GUSB ) | Molecular Diagnostics / PCR |
| Muskelatrophie Typ Kennedy | Muskelatrophie Typ Kennedy | Molecular Diagnostics / PCR |
| Muskeldystrophie Typ | Muskeldystrophie Typ | Molecular Diagnostics / PCR |
| Mütterliche Kontamination (STR) | Mütterliche Kontamination (STR) | Molecular Diagnostics / PCR |
| NF1, NF2, SPRED1 | NF1, NF2, SPRED1 | Molecular Diagnostics / PCR |
| Nierenerkrankung (ADPKD): PKD1, | Autosomal-dominante Polyzystische Nierenerkrankung (ADPKD): PKD1, PKD2 | Molecular Diagnostics / PCR |
| PAX6 | PAX6 | Molecular Diagnostics / PCR |
| PMP22 | PMP22 | Molecular Diagnostics / PCR |
| PTCH1 | PTCH1 | Molecular Diagnostics / PCR |
| Rett Syndrom | Rett-Syndrom: MECP2 | 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 |
| SNRPN | SNRPN | Molecular Diagnostics / PCR |
| Spingolipidosen Typ 1 (HEXA ); Spingolipidosen Typ 2 (HEXB ) | Spingolipidosen Typ 1 (HEXA ); Spingolipidosen Typ 2 (HEXB ) | Molecular Diagnostics / PCR |
| Subtelomerscreening | Subtelomerscreening | Molecular Diagnostics / PCR |
| Temple-Syndrom (matUPD14), | Temple-Syndrom (matUPD14) | 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 |
| (MTTL1) / MELAS (Myopathie, Enzephalopathie; Laktatazidose, Schlaganfall-ähnliche [´stroke-like´) | (MTTL1) / MELAS (Myopathie, Enzephalopathie; Laktatazidose, Schlaganfall-ähnliche [´stroke-like´) | Other |
| AR | AR | Other |
| ATP13A2, GCH, LRRK2, PARK7, PRKN, PINK1, SNCAM | ATP13A2, GCH, LRRK2, PARK7, PRKN, PINK1, SNCAM | Other |
| Alzheimer/Demenz: | Alzheimer/Demenz: | Other |
| Angeborener Herzfehler Typ 6: | Angeborener Herzfehler Typ 6: | Other |
| Aniridie: | Aniridie: | Other |
| CFHR1, CFHR2, CFHR3, CFHR4, CFHR5 | CFHR1, CFHR2, CFHR3, CFHR4, CFHR5 | Other |
| Dravet-Syndrom und | Dravet-Syndrom und | Other |
| Gorlin-Goltz-Syndrom | Gorlin-Goltz-Syndrom: | Other |
| Komplementdefekte (Neisseria): | Komplementdefekte (Neisseria): | Other |
| Parkinson | Parkinson: | Other |
| RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1 | RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1 | 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 |
| Synrom: | Synrom: | Other |
| Temple-Syndrom (matUPD14), Kagami-Ogata-Syndrom | Temple-Syndrom (matUPD14), Kagami-Ogata-Syndrom | Other |
| ° Proben werden vom Labor ohne vorherige histologische Beurteilung bearbeitet | ° Proben werden vom Labor ohne vorherige histologische Beurteilung bearbeitet | Other |
Send an Enquiry
Request a quote, ask about capacity, or discuss your testing requirements directly with this lab.