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Alphabetical order

Disease Gene OMIM TAT in weeks
ABCD syndrome1,3 EDNRB 131244 2-4
achondrogenesis1,3      
type 1B SLC26A2 606718 3-4
type 2 COL2A1 120140 4-6
type 2 COL2A1 120140 4-6
type 2 COL2A1 120140 2-3
achondroplasia FGFR3 134934 2-3
achromatopsia1,2,3      
type 2 CNGA3 600053 3-4
type 3 CNGB3 605080 3-4
type 4 GNAT2 139340 3-4
Achromatopsia1,3      
- PDE6C 600827 3-4
6 PDE6H 601190 3-4
acrocallosal syndrome1,2,3      
- GLI3 165240 3-5
- KIF7 611254 3-5
ACTION MYOCLONUS-RENAL FAILURE SYNDROME1,3 SCARB2 602257 2-4
acute liver failure1 ALDOB, NPC1, NPC2, SMPD1, LIPA, DGUOK, POLG, ... 610230,... 4-6
ADNSHL1,3      
type 7 TMC1 606706 4-5
ADPKD1 PKD1, PKD2 601313, 173910 2-4
adrenocorticotropic hormone deficiency1 TBX19 604614 2-4
adrenoleukodystrophy      
X-linked ABCD1 300371 2-4
ADTKD1      
ADMCKD type 1 MUC1 158340 3
agammaglobulinemia1      
X-linked 1 BTK 300300 2-4
agammaglobulinemia IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 4-6
Aicardi-Goutieres syndrome      
NGS IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR 4-8
Alagille Syndrome      
- NOTCH2 600275 2-4
Alagille syndrome3      
- JAG1 601920 2-4
Albinism, ocular1,3 GPR143 300808 2-4
Albinism, oculocutaneous1,3      
Type 1 TYR 606933 2-4
Type 2 OCA2 611409 2-4
Type 2, modifier of MC1R 155555 2-4
Type 3 TYRP1 115501 2-4
Type 4 SLC45A2 606202 2-4
type 7 C10ORF11 614537 2-4
Albinism1,3 verschiedene Gene für ALB 999999 4-6
Albright syndrome GNAS 139320 2-4
alpha-1-antitrypsin deficiency SERPINA1 107400 2-3
Alport syndrome1,3      
X chromosomal COL4A5 303630 2-4
autosomal recessive, autosomal dominant COL4A3 120070 2-4
autosomal recessive, autosomal dominant COL4A4 120131 2-4
Alstrom syndrome3 ALMS1 606844 2-4
amyloidosis TTR 176300 2-3
androgen insensitivity syndrome      
androgen insensitivity syndrome AR 313700 2-4
androgen insensitivity syndrome AR 313700 2-4
anemia, hemolytic (NGS)      
NGS 4-6
Angelman syndrome      
sequence analysis UBE3A UBE3A 601623 2-4
SNRPN, UBE3A 182279,601623 2-4
4-8
angiotensin 1 converting enzyme ACE 106180 1-2
Aniridia1,3 PAX6 607108 2-4
anonychia congenita1 RSPO4 610573 3-4
anophthalmia1      
anophthalmia SIX6 606326 2-4
anophthalmia VSX2 142993 2-4
Anterior segment dysgenesis1 Verschiedene Gene für ASGD 999999 4-8
antithrombin 3 deficiency SERPINC1 4-6
Apert syndrome1,3 FGFR2 176943 2-3
apparent mineralocorticoid excess HSD11B2 614232 2-4
ARC syndrome      
type 1 VPS33B, VIPAS39 608552,613401 4-6
type 1 VPS33B 608552 2-4
argininosuccinic aciduria1 ASL 608310 2-4
ARPKD2,3 PKHD1 606702 2-4
Arts syndrome      
- PRPS1 311950 3-4
ataxia teleangiectasia      
- ATM 607585 4-5
atelosteogenesis1,3      
type 1 FLNB 603381 2-4
type 2 SLC26A2 606718 3-4
type 3 FLNB 603381 3-4
Auditory Neuropathy1,3      
autosomal dominant, type 1 DIAPH3 614567 4-5
autosomal-recessive, type 59 DFNB59 610219 2-4
HARS2 600783 2-4
Axenfeld- Rieger Syndrome      
type 1 PITX2 601542 2-4
Axenfeld-Rieger syndrome1,3      
type 3 FOXC1 601090 2-4

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