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Alphabetical order
| Disease | Gene | OMIM | TAT in weeks |
|---|---|---|---|
| Waardenburg Syndrome1,3 | |||
| Type I | PAX3 | 606597 | 3-4 |
| Type II | SOX10 | 602229 | 3-4 |
| Type II | MITF | 156845 | 3-4 |
| Type II | SNAI2 | 602150 | 3-4 |
| Type III | PAX3 | 606597 | 3-4 |
| Type IV | SOX10 | 602229 | 3-4 |
| Waardenburg-Shah syndrome1,3 | |||
| - | EDN3 | 131242 | 3-4 |
| - | EDNRB | 131244 | 3-4 |
| WAGR syndrome1,3 | |||
| - | WT1 | 607102 | 3-4 |
| Weaver syndrome | |||
| - | EZH2 | 601573 | 2-4 |
| - | NSD1 | 606681 | 2-4 |
| Wiedemann-Steiner syndrome | KMT2A/MLL1 | 159555 | 4-6 |
| Wilms tumor | |||
| - | REST | 600571 | 2-4 |
| - | WT1 | 607102 | 2-4 |
| Wilson disease | |||
| NGS | ATP7B | 606882 | 2-4 |
| Winchester syndrome | MMP2 | 120360 | 4-6 |
| Wolfram Disease | |||
| type1 | WFS1 | 606201 | 2-4 |
| Wolman disease | LIPA | 613497 | 3-4 |
| Worfram Syndrome1,3 | |||
| type 2 | CISD2 | 611507 | 2-4 |
¹ We offer molecular testing for all genes known for this disease. In some cases, specific genotype - phenotype correlations exist that allow for targeted testing. Please contact us.
² We offer linkage analysis where applicable (e. g., samples available from several family members, parental consanguinity) for prioritization of genes to be tested.
³ Step-by-step analysis
All Analysis are carried out in Ingelheim, exceptions are those marked with *, which are carried out in collaborating laboratories.