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Alphabetical order
| Disease | Gene | OMIM | TAT in weeks |
|---|---|---|---|
| xanthinuria | |||
| type 1 | XDH | 607633 | 2-4 |
| 4-6 | |||
| xeroderma pigmentosum | |||
| NGS | DDB2, ERCC1-5, POLH, XPA, XPC | 4-8 |
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.