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Alphabetical order

Disease Gene OMIM TAT in weeks
Tachycardia, catecholaminergic polymorphic ventricular      
NGS CALM1, CASQ2, KCNJ2, RYR2, TRDN 114180,114251,600681,180902 4-8
Tay-Sachs disease HEXA 606869 2-3
Temple syndrome      
MLPA analysis UPD(14)mat 2-4
Thalassemia      
Beta HBB 141900 2-4
thalassemia      
alpha HBA1, HBA2 141800, 141850 2-4
thiamine-responsive megaloblastic anemia syndrome (SLC19A2) SLC19A2 603941 2-4
thiopurine methyltransferase deficiency* TPMT 187680 1-2
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
thyroid cancer, familial      
NGS APC, CDKN1B, DICER1, FOXE1, HABP2, MEN1, NKX2-1, PRKAR1A, RET, PTEN, TP53 4-8
thyroid disease1      
NGS DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1 4-8
thyroid dyshormonogenesis* TPO 606765 2-4
thyroid hormone resistance THRB 190160 2-4
ThyroSeq* 4-5
Tietz syndrome1,3 MITF 156845 3-4
torsion dystonia      
type 1 DYT1 605204 2-3
Townes-Brocks syndrome (SALL1) SALL1 602218 3-4
TP63-associated diseases TP63 603273 4-8
TRAPS TNFRSF1A 191190 3-5
Treacher Collins syndrome1,3      
Treacher Collins syndrome POLR1C 610060 3-4
Treacher Collins syndrome POLR1D 613715 3-4
Treacher Collins syndrome TCOF1 606847 6-8
Trichorhinophalangeal syndrome, type I      
MLPA TRPS1 604386 2-4
trimethylaminuria* FMO3 136132 2-4
triple A syndrome AAAS 605378 2-4
tuberous sclerosis      
type 1 TSC1 605284 3-4
type 2 TSC2 191092 4-5
tufting enteropathy, congenital      
- EPCAM 185535 4-8
tumor predisposition syndrome1 BAP1 603089 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.