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Alphabetical order
| Disease | Gene | OMIM | TAT in weeks |
|---|---|---|---|
| Raine syndrome1 | FAM20C | 611061 | 4-8 |
| RCAD (Renal cysts and diabetes syndrome)1,3 | |||
| - | HNF1B/TCF2 | 189907 | 2-4 |
| renal carcinoma1 | |||
| papillary | MET | 164860 | 2-4 |
| renal coloboma syndrome | PAX2 | 167409 | 3-4 |
| Renal tubular acidosis, distal/proximal1 | CA2 | 611492 | 2-4 |
| Renal tubular acidosis, distal1 | |||
| - | ATP6V0A4 | 267300 | 2-4 |
| - | ATP6V1B1 | 192132 | 2-4 |
| renal tubular acidosis, distal1 | |||
| - | SLC4A1 | 109270 | 2-4 |
| renal tubular acidosis, proximal1 | SLC4A4 | 603345 | 2-4 |
| renal tubular dysgenesis | |||
| - | ACE | 106180 | 3-4 |
| - | AGT | 160150 | 3-4 |
| - | AGTR1 | 106165 | 3-4 |
| - | REN | 179820 | 2-4 |
| Reticulate Acropigmentation of Dohi | ADAR | 146920 | 2-4 |
| Retinal Detachment1,3 | verschiedene Gene für REDE | 999999 | 4-8 |
| Retinal dystrophy | |||
| - | RGS9BP | 607814 | 2-4 |
| Retinitis Pigmentosa | |||
| NGS | diverse Gene | 999999 | 4-8 |
| Retinitis pigmentosa1,2,3 | |||
| retinitis pigmentosa | USH3A | 606397 | 2-3 |
| type 62 | MAK | *154235 | 3-4 |
| TMPRSS3 | 605511 | 3-4 | |
| retinitis Pigmentosa1,2,3 | |||
| type 18 | PRPF3 | 607301 | 4-5 |
| retinitis pigmentosa1,2,3 | |||
| - | RP1L1 | 608581 | 3-4 |
| juvenile | AIPL1 | 604392 | 2-4 |
| juvenile | LRAT | 604863 | 3-4 |
| juvenile | SPATA7 | 609868 | 3-4 |
| type 1 | RP1 | 603937 | 4-5 |
| type 10 | IMPDH1 | 146690 | 3-4 |
| type 11 | PRPF31 | 606419 | 3-4 |
| type 12 | CRB1 | 604210 | 4-5 |
| type 13 | PRPF8 | 607300 | 4-5 |
| type 14 | TULP1 | 602280 | 3-4 |
| type 17 | CA4 | 114760 | 3-4 |
| type 19 | ABCA4 | 601691 | 2-4 |
| type 2 | RP2 | 300757 | 3-4 |
| type 20 | RPE65 | 180069 | 3-4 |
| type 25 | RP25/EYS | 612424 | 4-5 |
| type 26 | CERKL | 608381 | 3-4 |
| type 3 | RPGR | 312610 | 3-4 |
| type 30 | FSCN2 | 607643 | 3-4 |
| type 31 | TOPORS | 609507 | 4-5 |
| type 33 | SNRNP200 | 601664 | 3-4 |
| type 37 | NR2E3 | 604485 | 4-6 |
| type 38 | MERTK | 604705 | 4-6 |
| type 38 | RBP3 | 180290 | 4-6 |
| type 39 | USH2A | 608400 | 2-4 |
| type 4 | RHO | 180380 | 4-5 |
| type 40 | PDE6B | 180072 | 4-6 |
| type 41 | PROM1 | 604365 | 3-4 |
| type 42 | KLHL7 | 180380 | 4-5 |
| type 43 | PDE6A | 180071 | 4-6 |
| type 44 | RGR/RP44 | 600342 | 4-6 |
| type 45 | CNGB1 | 600724 | 4-6 |
| type 46 | IDH3B | 604526 | 4-6 |
| type 47 | SAG | 181031 | 4-6 |
| type 49 | CNGA1 | 123825 | 4-6 |
| type 54 | C2ORF71 | 613425 | 2-4 |
| type 56 | IMPG2 | 607056 | 3-4 |
| type 64 | C8ORF37 | 614477 | 2-4 |
| type 65 | CDHR1 | 609502 | 4-6 |
| type 7 | PRPH2 | 179605 | 3-4 |
| type 7 | ROM1 | 602225 | 3-4 |
| ATP2B2 | 108733 | 2-4 | |
| CRX | 602225 | 4-5 | |
| FAM161A | 613596 | 3-4 | |
| FLVCR1 | 609144 | 3-4 | |
| NRL | 4-5 | ||
| RIPK3 | 605817 | 3-4 | |
| RLBP1 | 180090 | 3-4 | |
| retinoblastoma | |||
| - | RB1 | 614041 | 4-6 |
| NGS | RB1, MYCN | 614041, 164840 | 4-8 |
| Retinol dystrophy, iris coloboma, and comedogenic acne syndrome1 | |||
| Retinol dystrophy, iris coloboma, and comedogenic | RBP4 | 180250 | 4-6 |
| retinoschisis | |||
| X-linked, juvenile | RS1 | 300839 | 2-4 |
| Rett Syndrome | |||
| like | NTNG1 | 608818 | 3-4 |
| Rett syndrome | |||
| congenital variant | FOXG1 | 164874 | 4-5 |
| like | CDKL5 | 300203 | 3-4 |
| MECP2 | 300005 | 3-4 | |
| rhabdoid tumor predisposition syndrome | |||
| - | SMARCA4 | 603254 | 3-4 |
| Roberts syndrome1 | ESCO2 | 609353 | 2-4 |
| Robinow syndrome1 | |||
| autosomal dominant | WNT5A | 164975 | 2-4 |
| autosomal recessive | ROR2 | 602337 | 2-4 |
| Rubinstein Taybi syndrome | CREBBP, EP300 | 600140, 602700 | 4-8 |
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.