previous
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 |
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.