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Categorical order

Metabolic disorders
Disease Gene OMIM TAT in weeks
3-methylcrotonyl-CoA carboxylase 1 deficiency* MCCC1 609010 2-4
3-methylcrotonyl-CoA carboxylase 2 deficiency* MCCC2 609014 2-4
Cystic fibrosis      
MLPA CFTR 602421 2-4
familial mutation CFTR 602421 2-4
Fabry Disease      
Fabry disease GLA 300644 3-4
Fumaric aciduria (FH) FH 2-4
GLUT1 deficiency syndrome 1      
infantile onset, severe SLC2A1 138140 3-4
Generalized congenital lipodystrophy      
type 1 AGPAT2 603100 2-4
Gilbert syndrome UGT1A1 191740 1-2
Hypercholesterolemia, familial      
NGS APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1 4-6
Hyperinsulinism, exercise-induced1,3 SLC16A1 / MCT1 600682 2-4
Hyperinsulinism, familial1,3,4      
- ABCC8 600509 2-4
- ABCC8 600509 2-4
- HADH 601609 2-4
- INSR 147670 2-4
- KCNJ11 600937 2-4
NGS ABCC8, KCNJ11, GLUD1, GCK, HNF4A, SLC16A1, UCP2, HADH, ... 4-8
Hyperinsulinism-hyperammonemia syndrome GLUD1 138130 2-4
Imerslund-Gräsbeck syndrome      
Imerslund-Gräsbeck syndrome AMN 605799 2-4
Imerslund-Gräsbeck syndrome CUBN 602997 2-4
Infantile Hypercalciuria CYP24A1 126065 2-4
Joubert syndrome1,2,3      
- ATXN10 611150 3-5
- EXOC8 615283 3-5
- POC1B 614784 3-5
JBTS1 INPP5E 613037 3-5
JBTS10 OFD1 311200 3-5
JBTS11 TTC21B 612014 3-5
JBTS12 KIF7 611254 3-5
JBTS13 TCTN1 609863 3-5
JBTS14 TMEM237 614423 3-5
JBTS15 CEP41 610523 3-5
JBTS16 TMEM138 614465 3-5
JBTS17 C5orf42/CPLANE1 614571 3-5
JBTS18 TCTN3 613847 3-5
JBTS19 ZNF423 604557 3-5
JBTS2 TMEM216 613277 2-4
JBTS20 TMEM231 614949 3-5
JBTS21 CSPP1 611654 3-5
JBTS22 PDE6D 602676 3-5
JBTS24 TCTN2 613846 3-5
JBTS5 CEP290 610142 3-5
JBTS6 TMEM67 609884 3-5
JBTS7 RPGRIP1L 610937 3-5
JBTS8 ARL13B 608922 3-5
JBTS9 CC2D2A 612013 3-5
PIBF1 607532 2-4
KIAA0556 616650 4-6
KIAA0586 610178 4-6
Lipodystrophy      
NGS AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24 4-8
Medium-chain acyl-CoA dehydrogenase deficiency      
Medium-chain acyl-CoA dehydrogenase deficiency ACADM 607008 2-4
Medium-chain acyl-CoA dehydrogenase deficiency ACADM 607008 2-4
Methylmalonic aciduria (MMAB)      
cblB MMAB 607568 2-4
N-acetylglutamate synthetase deficiency1 NAGS 608300 2-4
Niemann-Pick disease1      
NGS NPC1, NPC2 607623, 601015 4-8
type A/B SMPD1 607608 2-4
type C1 NPC1 607623 4-6
Niemann-Pick-disease1      
type C2 NPC2 601015 4-6
type C2 NPC2 601015 4-6
P450 oxidoreductase deficiency* POR 124015 2-4
Pseudohypoaldosteronism type I      
renal NR3C2 600983 2-4
Sjögren-Larsson syndrome1 ALDH3A2/FALDH 609523 2-4
Smith-Lemli-Opitz syndrome DHCR7 602858 3-4
Wolman disease LIPA 613497 3-4
Zellweger syndrome1      
type 7A, 7B PEX26 608666 2-5
PEX1 602136 3-5
acute liver failure1 ALDOB, NPC1, NPC2, SMPD1, LIPA, DGUOK, POLG, ... 610230,... 4-6
adrenoleukodystrophy      
X-linked ABCD1 300371 2-4
argininosuccinic aciduria1 ASL 608310 2-4
biotinidase deficiency BTD 609019 2-4
carbamoylphosphate synthetase 1 deficiency* CPS1 608307 2-4
carnitine deficiency      
- SLC22A5 603377 2-4
carnitine palmitoyl transferase 2 deficiency1      
type 2 CPT2 600650 2-4
carnitine palmitoyl transferase deficiency1      
type 1A CPT1A 600528 2-4
cholestatic hepatopathy1 ATP8B1, ABCB4, MYO5B, ABCG5, ABCG8, CYP7B1, ... 8-12
congenital adrenal hyperplasia1,*      
congenital adrenal hyperplasia CYP11B1 610613 4-6
congenital adrenal hyperplasia CYP17A1 609300 4-6
congenital adrenal hyperplasia CYP21A2 613815 2-4
congenital adrenal hyperplasia HSD3B2 613890 4-6
congenital adrenal hyperplasia STAR 600617 8-10
congenital adrenal hyperplasia CYP11B1 610613 2-4
fructose intolerance ALDOB 612724 2-4
galactosemia1      
galactosemia GALT 606999 2-4
galactosemia GALT, GALE, GALK1 4-6
galactosemia GALT 606999 2-4
ghalactosialidosis1      
juvenile type CTSA 613111 2-4
glutaricaciduria      
type I GCDH 608801 8-12
glycine encephalopathy GLDC 238300 3-4
glycogen storage disease*      
NGS AGL, FBP1, G6PC, GAA, GBE1, PHKA2, PHKB, PHKG2, PYGM, SLC2A2, SLC37A4, ALDOA, ENO3, EPM2A, FBP2, GYG1, GYG2, GYS1, GYS2, LAMP2, LDHA, LDHB, NHLRC1, PFKL, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKG1, PRKAG2, PRKAG3, PYGL 4-8
type 0 GYS2 138571 2-4
type 11 SLC2A2 138160 2-4
type 1B/1C SLC37A4/G6PT1 602671 2-4
type 1a G6PC1/G6PC 613742 2-4
type 2 GAA 606800 2-4
type 2 GAA 606800 2-4
type 3B AGL 610860 2-4
type 4 GBE1 607839 2-4
glycosylation disorder1      
congenital PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1 4-8
congenital B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199 4-8
congenital ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165 4-8
congenital, type 2 ALG9 606941 2-4
homocystinuria      
without methylmalonic aciduria MTRR 602568 2-4
hyperammonemia1 ARG1, ASL, ASS1, CPS1, GLUD1, MMUT, NAGS, OTA, OTC, PCCA, PCCB, SLC25A13, SLC25A15, SLC7A7
hypercholesterolemia, congenital1      
- LDLRAP1 605747 2-4
- PCSK9 607786 2-4
hypercholesterolemia, familial1      
- APOB 107730 2-3
- LDLR 606945 2-4
hyperinsulinism, familial (UCP2) UCP2 601693 2-4
hyperlipidemia      
type 3 APOE 107741 2-3
hypoaldosteronism, familial CYP11B2 124080 2-4
lactase deficiency      
congenital LCT 603202 3-4
lactose intolerance LCT 601806 1-3
lipodystrophy, progressive cephalothoracic      
- LMNB2 150341 2-4
lung disease, diffuse      
NGS ABCA3, CSF2RA, CSF2RB, MARS, SFTPB, NKX2-1 etc 6-10
lysinuric protein intolerance SLC7A7 603593 2-4
maple syrup urine disease      
NGS BCKDHA, BCKDHB, DBT, DLD 4-6
type 1A BCKDHA 608348 2-4
type 1B BCKDHB 248611 2-4
type 2 DBT 248610 2-4
myoglobinuria      
genetic recurrent LPIN1 605518 2-4
obesity1,3      
- LEP 164160 2-4
- LEPR 601007 2-4
- MC3R 155540 2-4
- MC4R 155541 2-4
- PCSK1 2-4
- POMC 176830 2-4
MLPA LEPR, MC4R, POMC, LEP, MC2R 601007, 155541, 176830, 614962 2-4
NGS BBS1, BBS10, DYRK1B, KSR2, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, PPARG, SIM1, UCP3 4-6
organic acidemia (NGS)*
ornithine transcarbamylase deficiency1 OTC 311250 3-4
phenylketonuria* PAH 612349 2-4
porphyria1 ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS 4-6
propionic acidemia*      
propionic acidemia PCCA 232000 6-10
propionic acidemia PCCA, PCCB 6-10
propionic acidemia PCCA, PCCB
propionic acidemia PCCB 232050 6-10
pseudohypoaldosteronism type I      
SCNN1A 600228 2-4
SCNN1B 600760 2-4
SCNN1G 600761 2-4
pyruvate carboxylase deficiency* PC 608786 2-4
pyruvate dehydrogenase E3 deficiency1 DLD 238331 2-4
trimethylaminuria* FMO3 136132 2-4
very long chain acyl-CoA dehydrogenase deficiency* ACADVL 609575 2-4
xanthinuria      
type 1 XDH 607633 2-4
4-6

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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.

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