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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

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