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Categorical order

Blood disorders
Disease Gene OMIM TAT in weeks
Bernard-Soulier syndrome      
- GP1BA, GP1BB, G9 4-6
Bernard-Soulier syndrome type A1      
- GP1BA 606672 2-4
Majeed syndrome LPIN2 605519 4-6
Sickle Cell Anemia HBB 141900 2-4
Thalassemia      
Beta HBB 141900 2-4
anemia, hemolytic (NGS)      
NGS 4-6
dysfibrinogenemia*      
dysfibrinogenemia FGA 134820 5-7
dysfibrinogenemia FGB 134830 5-7
dysfibrinogenemia FGG 134850 5-7
elliptocytosis, hereditary      
NGS SPTA1, SPTB, EPB41, AMMECR1 4-6
erythrocytosis, familial 1      
- EPOR 133171 4-6
- EPOR 133171 2-4
homocystinuria due to MTHFR deficiency MTHFR 607093 1-2
methemoglobinemia      
type 1 and 2 CYB5R3 613213 4-8
neutropenia      
NGS ELANE, G6PC3, HAX1, JAGN1, WAS 202700, 612541, 610738, 616022, 300299 4-8
X-linked WAS 300392 4-8
severe congenital 1 ELANE/ELA2 130130 2-4
severe congenital 3 HAX1 605998 4-6
severe congenital 4 G6PC3 611045 4-8
severe congenital 6 JAGN1 616012 4-8
paroxysmal nocturnal hemoglobinuria      
paroxysmal nocturnal hemoglobinuria PIGA 311770 2-4
paroxysmal nocturnal hemoglobinuria PIGA, PIGT 2-4
plasminogen activator inhibitor type 1 deficiency PAI1 173360 1-2
porphyria1 ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS 4-6
protein C deficiency1 PROC 612283 2-4
spherocytosis, hereditary      
NGS ANK1, SPTB, SPTA1, SLC4A1/EPB3, EPB42 612641, 182870, 182860, 109270, 177070 6-8
thalassemia      
alpha HBA1, HBA2 141800, 141850 2-4
thiamine-responsive megaloblastic anemia syndrome (SLC19A2) SLC19A2 603941 2-4
thrombocytopenia      
NGS ADAMTS13, ANKRD26, CYCS, ETV6, FCGR2C, GATA1, GP1BA, GP1BB, GP9, HOXA11, ITGA2B, ITGB3, MASTL, MPL, MYH9, RBM8A, RUNX1, THBD, SRC, TUBB1, WAS 4-6
thrombocytosis, familial      
NGS JAK2, MPL, THPO 4-6
thrombotic thrombocytopenic purpura ADAMTS13 604134 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 ‚Äčin Ingelheim, exceptions are those marked with *, which are carried out in ‚Äčcollaborating laboratories.

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