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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 |
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.