Alport-like-Syndrom | 153650 | 3 | | | | |
| | Heinrich-von-Stephan-Str. 5 79100 Freiburg | Methode - Sanger-Sequenzierung
- Deletionsscreening
- quantitative PCR (realtime PCR)
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| | Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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| | Kerpener Str. 34 50931 Köln | | |
| | | Kontaktperson Beck, BodoTel 0221-478-86811 Fax 0221-478-86812 | | | |
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| | Albert-Schweitzer-Ring 32 02943 Weißwasser | | |
| | | Kontaktperson Nagel, MatoTel 03576-2879-22 Fax 03576-2879-44 | | | |
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Alport-Syndrom (autosomal rezessiv) | 203780 | 6 | | | | |
| | Gutenbergstr. 5 01307 Dresden | | |
| | | Kontaktperson Reif, SilkeTel 0351 / 44 66 340 Fax 0351 / 44 66 3415 | | | |
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| | Heinrich-von-Stephan-Str. 5 79100 Freiburg | Methode - CGH (Comparative Genome Hybridisation)
- Sanger-Sequenzierung
- quantitative PCR (realtime PCR)
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| | Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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| | Kerpener Str. 34 50931 Köln | Methode - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
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| | | Kontaktperson Beck, BodoTel 0221-478-86811 Fax 0221-478-86812 | | | |
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| | Lochhamerstr. 29 82152 Martinsried | | |
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| | Friedenheimer Brücke 19 80639 München | | |
| | Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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| | Albert-Schweitzer-Ring 32 02943 Weißwasser | Methode - Sanger-Sequenzierung
- PCR-Analyse
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
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| | Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| Kontaktperson Nagel, MatoTel 03576-2879-22 Fax 03576-2879-44 | | | |
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Alport-Syndrom (X-chromosomal) | 301050 | 6 | | | | |
| | Gutenbergstr. 5 01307 Dresden | Methode - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
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| | | Kontaktperson Reif, SilkeTel 0351 / 44 66 340 Fax 0351 / 44 66 3415 | | | |
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| | Heinrich-von-Stephan-Str. 5 79100 Freiburg | Methode - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
- quantitative PCR (realtime PCR)
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| | Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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| | Lademannbogen 61 22339 Hamburg | Methode - Sanger-Sequenzierung
- PCR-Analyse
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| | Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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| | Kerpener Str. 34 50931 Köln | Methode - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
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| | | Kontaktperson Beck, BodoTel 0221-478-86811 Fax 0221-478-86812 | | | |
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| | Lochhamerstr. 29 82152 Martinsried | | |
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| | Albert-Schweitzer-Ring 32 02943 Weißwasser | Methode - Sanger-Sequenzierung
- PCR-Analyse
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
- Mutationsanalyse (DHPLC, SSCP, DGGE)
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| | Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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ALS-Defizienz | 615961 | 2 | | | | |
| | | Methode - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
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| | | Kontaktperson Held, KarstenTel +49 (0)40 30804 426 Fax +49 (0)40 30804 958 | | | |
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| | Albert-Schweitzer-Ring 32 02943 Weißwasser | Methode - Sanger-Sequenzierung
- PCR-Analyse
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| | | Kontaktperson Nagel, MatoTel 03576-2879-22 Fax 03576-2879-44 | | | |
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Alström Syndrom | 203800 | 1 | | | | |
| | Albert-Schweitzer-Ring 32 02943 Weißwasser | | |
| | Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
| Kontaktperson Nagel, MatoTel 03576-2879-22 Fax 03576-2879-44 | | | |
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altersbedingte Makuladegeneration | 610698 | 2 | | | | |
| | Gutenbergstr. 5 01307 Dresden | | |
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| | Lochhamerstr. 29 82152 Martinsried | Methode - Fragmentanalyse
- PCR-Analyse
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Alzheimer Krankheit, early-onset familiär | 104300 | 2 | | | | |
| | Heinrich-von-Stephan-Str. 5 79100 Freiburg | Methode - Sanger-Sequenzierung
- Deletionsscreening
- quantitative PCR (realtime PCR)
| |
| | Spezifikation - Pränatale Diagnostik
- Molekulargenetisch
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| | Albert-Einstein-Allee 11 89081 Ulm | Methode - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
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Alzheimer-Demenz (familiär) Typ 1 | 104300 | 4 | | | | |
| | Brauhausstr. 4 44137 Dortmund | Methode - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
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| | Gutenbergstr. 5 01307 Dresden | Methode - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
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| | Heinrich-von-Stephan-Str. 5 79100 Freiburg | Methode - Sanger-Sequenzierung
- Deletionsscreening
- quantitative PCR (realtime PCR)
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| | Lochhamerstr. 29 82152 Martinsried | | |
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Alzheimer-Demenz (familiär) Typ 2 | 104310 | 8 | | | | |
| | Gutenbergstr. 5 01307 Dresden | | |
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| | Bergstr. 14 D-20095 Hamburg | | |
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| | Schiffgraben 30 30175 Hannover | | |
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| | Gerwigstraße 67 76131 Karlsruhe | | |
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| | Strümpellstr. 40 04289 Leipzig | | |
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| | Lochhamerstr. 29 82152 Martinsried | | |
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| | Wallstr. 10 D-41061 Mönchengladbach | | |
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| | Albert-Schweitzer-Ring 32 02943 Weißwasser | | |
| | | Kontaktperson Nagel, MatoTel 03576-2879-22 Fax 03576-2879-44 | | | |
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Alzheimer-Demenz (familiär) Typ 3 | 607822 | 4 | | | | |
| | Brauhausstr. 4 44137 Dortmund | | |
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| | Gutenbergstr. 5 01307 Dresden | Methode - Sanger-Sequenzierung
- MLPA (Multiple Ligation-dependent Probe Amplification
- Deletionsscreening
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| | Bergstr. 14 D-20095 Hamburg | | |
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| | Lochhamerstr. 29 82152 Martinsried | | |
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