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Alphabetical order

Disease Gene OMIM TAT in weeks
ectodermal dysplasia1      
NGS EDA, EDAR, EDARADD, GJB6, KRT85, NFKBI, TP63, ... 300451, 604095, 606603,... 4-8
hypohidrotic EDAR 604095 3-4
hypohidrotic EDARADD 606603 3-4
hypohidrotic, X-linked EDA 300451 3-4
Ehlers-Danlos syndrome1,3      
NGS ADAMTS2, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, 4-6
hypermobile type TNXB 600985 2-4
type 1 COL5A1 120215 2-4
type 1 COL5A2 120190 2-4
type 2 COL5A1 120215 2-4
type 2 COL5A2 120190 2-4
type 6 PLOD1 153454 2-4
type 7A COL1A1 120150 2-4
type 7B COL1A2 120160 2-4
vascular type COL3A1 120180 2-4
vascular type COL3A1 120180 2-4
elliptocytosis, hereditary      
NGS SPTA1, SPTB, EPB41, AMMECR1 4-6
Ellis van Creveld syndrome1,3      
- EVC 604831 2-4
- EVC2 607261 2-4
Ellis-van-Creveld syndrome 4-8
encephalopathy      
epileptic WWOX 605131 2-4
lethal neonatal spasticity-epileptic BRAT1 614506 3-4
epidermolysis bullosa      
- COL17A1 113811 6-8
Herlitz type LAMC2 150292 3-4
NGS COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5 4-8
dystrophica COL7A1 120120 6-8
junctional LAMA3 600805 4-5
junctional, Herlitz type LAMB3 150310 3-4
junctional, type non-Herlitz LAMB3 150310 3-4
simplex KRT14 148066 3-4
simplex KRT5 148040 3-4
epilepsy      
metabolic ADSL, ALDH5A1, ALDH7A1, AMT, CLN3, DPYD, FOLR1, GAMT, GCDH, GLDC, PNPO, POLG, PPT1, SLC2A1, TPP1 4-8
with febrile seizures 4-8
episodic ataxia      
type 2 CACNA1A 601011 4-6
erythrocytosis, familial 1      
- EPOR 133171 4-6
- EPOR 133171 2-4
exudative vitreoretinopathy      
type 1 FZD4 604579 2-4
type 4 LRP5 603506 3-4

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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.