ScopeSYNLAB MVZ Humangenetik München
Official name: SYNLAB Medizinisches Versorgungszentrum Augsburg GmbH SYNLAB MVZ Humangenetik München Zweigniederlassung der SYNLAB Medizinisches Versorgungszentrum Augsburg GmbH
31 capabilities
Accredited since May 2025
Verified Oct 2026
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Details
Lindwurmstraße 23
München 80337 , Germany
München 80337 , Germany
Accreditation
Active
DAkkS
D-ML-13225-07-00
humane-genetik.de
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Specialises in molecular human genetics and cytogenetics, including chromosome analysis and copy number variation analysis. Testing utilises chromosome banding analysis, hybridization capture, and sequencing-by-synthesis techniques on blood, tissue, and cultured cell samples.
Accreditation Details
Accreditation Body
DAkkS
Number
D-ML-13225-07-00
Status
ActiveSince
15 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 (31)
| Standard Reference | Description | Category |
|---|---|---|
| Angeborener Chromosomensatz | angeborener Chromosomensatz | Biocompatibility (ISO 10993) |
| (CMT, HMSN), Gen-Panel: ID312.02 | (CMT, HMSN), Gen-Panel: ID312.02 | Molecular Diagnostics / PCR |
| AARS1, AIFM1, ARHGEF10, ATP1A1, ATP7A, BSCL2, CADM3, CNTNAP1, COQ7, COX6A1, DCTN1, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, EMILIN1, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS1, GBF1, GDAP1, GJB1, GNB4, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, ITPR3, JAG1, JPH1, KARS1, KIF1B, LITAF, LMNA, LRSAM1, MARS1, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PDXK, PLEKHG5, PMP2, PMP22, PNKP, POLR3B, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SORD, SPG11, SPTAN1, SPTLC1, SURF1, SYT2, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1 | AARS1, AIFM1, ARHGEF10, ATP1A1, ATP7A, BSCL2, CADM3, CNTNAP1, COQ7, COX6A1, DCTN1, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, EMILIN1, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS1, GBF1, GDAP1, GJB1, GNB4, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, ITPR3, JAG1, JPH1, KARS1, KIF1B, LITAF, LMNA, LRSAM1, MARS1, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NAGLU, NDRG1, NEFH, NEFL, PDK3, PDXK, PLEKHG5, PMP2, PMP22, PNKP, POLR3B, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SORD, SPG11, SPTAN1, SPTLC1, SURF1, SYT2, TRIM2, TRPV4, VCP, VRK1, VWA1, WARS1, YARS1 | Molecular Diagnostics / PCR |
| CNV | FMR1 [OMIM*309550], AFF2 [OMIM*300806]; SNV, CNV | Molecular Diagnostics / PCR |
| CNV | [OMIM*601623]; SNV, CNV | Molecular Diagnostics / PCR |
| Charcot-Marie-Tooth-Neuropathie | Charcot-Marie-Tooth-Neuropathie | Molecular Diagnostics / PCR |
| Chromosomensatz | Chromosomensatz | Molecular Diagnostics / PCR |
| Chromosomensatz (zur Abklärung einer de novo Chromosomenveränderung) | Chromosomensatz (zur Abklärung einer de novo Chromosomenveränderung) | Molecular Diagnostics / PCR |
| Dysproportionierter Kleinwuchs, Gen: FGFR3 [OMIM*134934] | Dysproportionierter Kleinwuchs, Gen: FGFR3 [OMIM*134934] | Molecular Diagnostics / PCR |
| F8 [OMIM*300841], F9 [OMIM*300746] | F8 [OMIM*300841], F9 [OMIM*300746] | Molecular Diagnostics / PCR |
| F8-Gen | F8-Gen | Molecular Diagnostics / PCR |
| FBN1 [OMIM*134797], TGFBR1 [OMIM*190181], TGFBR2 [OMIM*190182]; SNV, CNV | FBN1 [OMIM*134797], TGFBR1 [OMIM*190181], TGFBR2 [OMIM*190182]; SNV, CNV | Molecular Diagnostics / PCR |
| Friedreich-Ataxie, Gen: FXN | Friedreich-Ataxie, Gen: FXN | Molecular Diagnostics / PCR |
| Genotyp (im Hinblick auf eine bekannte familiäre Genvariante) | Genotyp (im Hinblick auf eine bekannte familiäre Genvariante) | Molecular Diagnostics / PCR |
| HLA-B27 [OMIM#106300] | HLA-B27 [OMIM#106300] | Molecular Diagnostics / PCR |
| Loeys Dietz Syndrom | Marfan-, Loeys-Dietz-Syndrom | Molecular Diagnostics / PCR |
| Mikrodeletion 22q11.2 | Mikrodeletion 22q11.2 | Molecular Diagnostics / PCR |
| Myotone Dystrophie Typ1 | Myotone Dystrophie Typ1 | Molecular Diagnostics / PCR |
| Myotone Dystrophie Typ2 (PROMM) [OMIM#602668] (Untersuchung auf Repeatexpansion), Gen: CNBP | Myotone Dystrophie Typ2 (PROMM) [OMIM#602668] (Untersuchung auf Repeatexpansion), Gen: CNBP | Molecular Diagnostics / PCR |
| Prader-Willi-Syndrom (PWS), Angelman-Syndrom (AS), Analyse | Prader-Willi-Syndrom (PWS), Angelman-Syndrom (AS), Analyse | Molecular Diagnostics / PCR |
| TPMT | TPMT | Molecular Diagnostics / PCR |
| UPD15; Gen: UBE3A | UPD15; Gen: UBE3A | Molecular Diagnostics / PCR |
| Whole Exome Sequencing (WES) | Whole Exome Sequencing (WES) | Molecular Diagnostics / PCR |
| [OMIM#160900] (Untersuchung auf Repeatexpansion), Gen: DMPK | [OMIM#160900] (Untersuchung auf Repeatexpansion), Gen: DMPK | Molecular Diagnostics / PCR |
| [OMIM#188400] | [OMIM#188400] | Molecular Diagnostics / PCR |
| [OMIM*606829] | [OMIM*606829] | Molecular Diagnostics / PCR |
| des Methylierungsstatus und Deletionsanalyse; SNRPN- Region/15q11-13 [OMIM*600161] | des Methylierungsstatus und Deletionsanalyse; SNRPN- Region/15q11-13 [OMIM*600161] | Molecular Diagnostics / PCR |
| partieller Chromosomensatz (zur Abklärung bekannter familiärer Chromosomenveränderung) | partieller Chromosomensatz (zur Abklärung bekannter familiärer Chromosomenveränderung) | Molecular Diagnostics / PCR |
| partieller angeborener | partieller angeborener | Molecular Diagnostics / PCR |
| SNV, CNV | SNV, CNV | Other |
| c.238G>C (dbSNP rs1800462), c.460G>A (dbSNP rs1800460), c.719A>G (dbSNP rs1142345), Gen: | c.238G>C (dbSNP rs1800462), c.460G>A (dbSNP rs1800460), c.719A>G (dbSNP rs1142345), Gen: | Other |
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