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Alphabetical order
| Disease | Gene | OMIM | TAT in weeks |
|---|---|---|---|
| Ichthyoses1 | |||
| NGS | ABCA12, ALOX12B, ALOXE3, CYP4F22, KRT1, KRT10, LIPN, NIPAL4, STS, TGM1 und weitere | 4-8 | |
| IGF1 deficiency | |||
| IGF1 deficiency | IGF1 | 147440 | 2-4 |
| IGF1 deficiency | IGF1 | 147440 | 2-4 |
| IMAGe syndrome | CDKN1C | 600856 | 2-4 |
| Imerslund-Gräsbeck syndrome | |||
| Imerslund-Gräsbeck syndrome | AMN | 605799 | 2-4 |
| Imerslund-Gräsbeck syndrome | CUBN | 602997 | 2-4 |
| Infantile Hypercalciuria | CYP24A1 | 126065 | 2-4 |
| intellectual disability | |||
| X-linked | OPHN1 | 300127 | 4-6 |
| IPEX syndrome | FOXP3 | 300292 | 2-4 |
| Irinotecan Therapy | UGT1A1 | 191740 | 2-3 |
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.