previous

Alphabetical order

Disease Gene OMIM TAT in weeks
Fabry Disease      
Fabry disease GLA 300644 3-4
Familial dysautonomia      
- IKBKAP 603722 3-4
familial Mediterranean fever3 MEFV 608107 2-4
Familial primary hypomagnesemia      
type 3 CLDN16 2-4
type 5 CLDN19 2-4
FAMMM syndrome      
NGS BAP1, BRCA2, CDK4, CDKN2A, MC1R, MITF, PTEN, POT1, TP53 4-8
Fanconi anemia      
NGS BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, PALB2, SLX4, XRCC2 4-8
fatty acid oxidation disorders ACADL, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, HADHA, HADHB, HSD17B10, MLYCD, SLC22A5, SLC25A20 4-8
Feingold syndrome*      
type 1 MYCN 164840 3-4
type 2 MIR17HG 609415 4-5
fibular aplasia and complex brachydactyly1 GDF5 601146 2-4
fleck retina, familial benign PLA2G5 601192 2-4
Flecked Retina Syndrome verschiedene Gene für FRS 4-8
Fragile X syndrome FMR1 309550 2-5
Frank-Ter Haar syndrome SH3PXD2B 613293 6-8
Frasier sydrome3 WT1 607102 2-4
Friedreich ataxia* FXN 606829 3-4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 CHCHD10 615903 2-4
fructose intolerance ALDOB 612724 2-4
Fumaric aciduria (FH) FH 2-4
Fundus albipunctatus1,2,3 RDH5 601617 4-6

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 ​in Ingelheim, exceptions are those marked with *, which are carried out in ​collaborating laboratories.