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Alphabetical order
| Disease | Gene | OMIM | TAT in weeks |
|---|---|---|---|
| vasculopathy | |||
| ADA2 deficiency | CECR1/ADA2 | 607575 | 2-4 |
| very long chain acyl-CoA dehydrogenase deficiency* | ACADVL | 609575 | 2-4 |
| vitamin D-resistant rickets | |||
| type 2A | VDR | 601769 | 2-4 |
| vitamin-D dependent rickets1 | |||
| Type 1B | CYP2R1 | 608713 | 3-4 |
| type 1A | CYP27B1 | 609506 | 3-4 |
| von Hippel-Lindau syndrome | VHL | 608537 | 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.