previous

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

back to top

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.