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Alphabetical order
| Disease | Gene | OMIM | TAT in weeks |
|---|---|---|---|
| Jackson-Weiss syndrome | FGFR2 | 176943 | 1-2 |
| Jeune syndrome1,2,3 | |||
| type 10 | IFT172 | 607386 | 3-4 |
| type 11 | WDR34 | 613363 | 3-5 |
| type 2 | IFT80 | 611177 | 3-5 |
| type 3 | DYNC2H1 | 603297 | 4-8 |
| type 4 | TTC21B | 612014 | 3-5 |
| type 5 | WDR19/IFT144 | 608151 | 3-5 |
| type 6 | NEK1 | 604588 | 3-5 |
| type 7 | WDR35 | 613602 | 4-5 |
| type 8 | WDR60 | 615462 | 5 |
| Joubert syndrome1,2,3 | |||
| - | ATXN10 | 611150 | 3-5 |
| - | EXOC8 | 615283 | 3-5 |
| - | POC1B | 614784 | 3-5 |
| JBTS1 | INPP5E | 613037 | 3-5 |
| JBTS10 | OFD1 | 311200 | 3-5 |
| JBTS11 | TTC21B | 612014 | 3-5 |
| JBTS12 | KIF7 | 611254 | 3-5 |
| JBTS13 | TCTN1 | 609863 | 3-5 |
| JBTS14 | TMEM237 | 614423 | 3-5 |
| JBTS15 | CEP41 | 610523 | 3-5 |
| JBTS16 | TMEM138 | 614465 | 3-5 |
| JBTS17 | C5orf42/CPLANE1 | 614571 | 3-5 |
| JBTS18 | TCTN3 | 613847 | 3-5 |
| JBTS19 | ZNF423 | 604557 | 3-5 |
| JBTS2 | TMEM216 | 613277 | 2-4 |
| JBTS20 | TMEM231 | 614949 | 3-5 |
| JBTS21 | CSPP1 | 611654 | 3-5 |
| JBTS22 | PDE6D | 602676 | 3-5 |
| JBTS24 | TCTN2 | 613846 | 3-5 |
| JBTS5 | CEP290 | 610142 | 3-5 |
| JBTS6 | TMEM67 | 609884 | 3-5 |
| JBTS7 | RPGRIP1L | 610937 | 3-5 |
| JBTS8 | ARL13B | 608922 | 3-5 |
| JBTS9 | CC2D2A | 612013 | 3-5 |
| PIBF1 | 607532 | 2-4 | |
| KIAA0556 | 616650 | 4-6 | |
| KIAA0586 | 610178 | 4-6 |
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.