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Alphabetical order

Disease Gene OMIM TAT in weeks
hairy cell leukemia      
NGS BRAF, KLF2, CDKN1B 2
hemochromomatosis1      
NGS HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6 4-8
Hemolytic-uremic syndrome, atypical1,3      
- CFHR5 608593 2-4
AHUS1 CFH 134370 2-4
AHUS2 MCP/CD46 120920 2-4
AHUS3 CFI 217030 2-4
AHUS4 CFB 138470 2-4
AHUS5 C3 120700 2-4
AHUS6 THBD 188040 2-4
AHUS7 DGKE 601440 2-4
hepatocellular carcinoma      
NGS ABCB11, AGL, APC, CDKN2A, FAH, G6PC, HMBS, PPOX, PRKAR1A, SPRTN, BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2 4-8
hereditary neuropathy with liability to pressure palsies PMP22 601097 3-4
Hereditary renal hypouricemia      
type 1 SLC22A12 607096 2-4
type 2 SLC2A9 606142 2-4
Hermansky-Pudlak syndrome      
type 5 HPS5 607521 2-4
type 6 HPS6 607522 2-4
type 8 BLOC1S3 609762 2-4
verschiedene Gene für HPS 999999 4-8
Hermansky-Pudlak syndrome 1      
type 1 HPS1 604982 2-4
Hermansky-Pudlak syndrome 3      
type 3 HPS3 606118 2-4
Hermansky-Pudlak syndrome1,3      
type 5 HPS5 607521 2-4
type 6 HPS6 607522 2-4
type 8 BLOC1S3 609762 2-4
verschiedene Gene für HPS 999999 4-8
holoprosencephaly PTCH1 601309 4-6
Holt-Oram syndrome1,3      
Holt-Oram syndrome TBX5 601621 2-4
Holt-Oram syndrome TBX5 601621 2-4
homocystinuria      
without methylmalonic aciduria MTRR 602568 2-4
homocystinuria due to MTHFR deficiency MTHFR 607093 1-2
hydrocephalus      
X-linked L1CAM 308840 3-5
hyper-IgD syndrome MVK 251170 4-6
hyper-IgE syndrome      
NGS DOCK8, STAT3, TYK2 4-8
hyperammonemia1 ARG1, ASL, ASS1, CPS1, GLUD1, MMUT, NAGS, OTA, OTC, PCCA, PCCB, SLC25A13, SLC25A15, SLC7A7
Hypercalcemia, familial hypocalciuric      
type 1 CASR 601199 2-4
type 2 GNA11 139313 2-4
type 3 AP2S1 602242 2-4
hypercholesterolemia, congenital1      
- LDLRAP1 605747 2-4
- PCSK9 607786 2-4
Hypercholesterolemia, familial      
NGS APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1 4-6
hypercholesterolemia, familial1      
- APOB 107730 2-3
- LDLR 606945 2-4
Hyperinsulinism, exercise-induced1,3 SLC16A1 / MCT1 600682 2-4
hyperinsulinism, familial (UCP2) UCP2 601693 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
hyperlipidemia      
type 3 APOE 107741 2-3
hyperostosis corticalis generalisata LRP5 603506 3-4
Hyperoxaluria, primary1,3      
type 1 AGXT 604285 2-4
type 2 GRHPR 604296 2-4
Hyperoxaluria1,3      
type 3 HOGA1/DHDPSL 613597 2-4
SLC26A1 610130 2-4
hypertension and brachydactyly syndrome      
- PDE3A 123805 2-4
hypoaldosteronism, familial CYP11B2 124080 2-4
Hypocalcemia CASR 601199 2-4
Hypocalemic Periodic Paralysis CACNA1S, SCN4A 4-6
hypochondrogenesis1,3      
hypochondrogenesis COL2A1 120140 4-6
hypochondrogenesis COL2A1 120140 4-6
hypochondroplasia1 FGFR3 134934 1-2
hypoglycemia, syndromal1,4      
NGS AKT1, AKT2, AKT3, ALG3, CACNA1C, GPC3, HRAS, MEF2C, MPI, PGM1, PIK3CA, PIK3R2, PMM2, PTEN, RNF125 4-8
Hypogonadotropic hypogonadism1,4      
NGS 4-8
hypomagnesemia      
type 1 TRPM6 607009 2-4
hypophosphataemia      
autosomal dominant FGF23 605380 2-4
SLC34A3 609826 2-4
SLC34A1 182309 2-4
hypophosphatasia ALPL/TNSALP 171760 4-6
hypophosphatemic rickets      
X-linked dominant PHEX 300550 2-4
SLC9A3R1 604990 2-4
Hypothyroidism due to mutations in the TSH receptor* TSHR 603372 2-4
Hypoventilation syndrome      
- PHOX2B 603851 2-3

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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.