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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

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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 ‚Äčin Ingelheim, exceptions are those marked with *, which are carried out in ‚Äčcollaborating laboratories.