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Hematology
Sequencing Panels
- Anemia and iron metabolism disorders (global panel) [291 genes]
Ref.: S-202008684|Turnaround time (TAT) 25 days
- Alpha-thalassemia. Sequencing of the HBA1 and HBA2 genes [2 genes]
Ref.: S-202008700|Turnaround time (TAT) 25 days
- Beta-thalassemia. Sequencing of the HBB gene [1 gene]
Ref.: S-202008701|Turnaround time (TAT) 25 days
- Sickle cell anemia. Sequencing of the HBB gene by Sanger [1 gene]
Ref.: S-202008702|Turnaround time (TAT) 25 days
- Spherocytosis / elliptocytosis [7 genes]
Ref.: S-202008690|Turnaround time (TAT) 25 days
- Erythroenzymopathies [2 genes]
Ref.: S-202008689|Turnaround time (TAT) 25 days
- Glucose-6-phosphate dehydrogenase deficiency. Sequencing of the G6PD gene [1 gene]
Ref.: S-202008815|Turnaround time (TAT) 25 days
- Fanconi anemia [22 genes]
Ref.: S-201805629|Turnaround time (TAT) 25 days
- Dyskeratosis congenita [25 genes]
Ref.: S-202313132|Turnaround time (TAT) 25 days
- Diamond-Blackfan syndrome [29 genes]
Ref.: S-202008692|Turnaround time (TAT) 25 days
- Congenital dyserythropoietic anemia [9 genes]
Ref.: S-202008697|Turnaround time (TAT) 25 days
- Sideroblastic anemia [12 genes]
Ref.: S-202008695|Turnaround time (TAT) 25 days
- Megaloblastic anemia [18 genes]
Ref.: S-202008694|Turnaround time (TAT) 25 days
- Erythrocytosis [11 genes]
Ref.: S-202008693|Turnaround time (TAT) 25 days
- Porphyria [10 genes]
Ref.: S-202008696|Turnaround time (TAT) 25 days
- Thrombophilia and Hemostasis [176 genes]
Ref.: S-202009655|Turnaround time (TAT) 25 days
- Hemostasis and bleeding [148 genes]
Ref.: S-202009656|Turnaround time (TAT) 25 days
- Hermansky-Pudlak syndrome [21 genes]
Ref.: S-202008287|Turnaround time (TAT) 25 days
- Bernard-Soulier syndrome [3 genes]
Ref.: S-202008297|Turnaround time (TAT) 25 days
- Hemophilia A. Sequencing of the F8 gene [1 gene]
Ref.: S-202008850|Turnaround time (TAT) 25 days
- Hemophilia A. Detection of the intron 22 inversion of the F8 gene [1 gene]
Ref.: S-202009335|Turnaround time (TAT) 25 days
- Hemophilia B. Sequencing of the F9 gene [1 gene]
Ref.: S-202008804|Turnaround time (TAT) 25 days
- Hemophilia F8 and F9 [2 genes]
Ref.: S-202008299|Turnaround time (TAT) 25 days
- Hemophilia-like diseases [7 genes]
Ref.: S-202008294|Turnaround time (TAT) 25 days
- Von Willebrand disease [1 gene]
Ref.: S-202008851|Turnaround time (TAT) 25 days
- Fibrinogen disorders [3 genes]
Ref.: S-202008301|Turnaround time (TAT) 25 days
- Thrombophilia and Hemostasis [176 genes]
Ref.: S-202009655|Turnaround time (TAT) 25 days
- Thrombophilia [30 genes]
Ref.: S-202008298|Turnaround time (TAT) 25 days
- Thrombotic thrombocytopenic purpura and thrombotic microangiopathy. Sequencing of the ADAMTS13 gene [1 gene]
Ref.: S-202009513|Turnaround time (TAT) 25 days
- Thrombophilia. Factor V Leiden deficiency. Detection of the R506Q polymorphism in the F5 gene [1 gene]
Ref.: S-202009659|Turnaround time (TAT) 25 days
- Thrombophilia. Detection of the G20210A polymorphism in the F2 gene [1 gene]
Ref.: S- 202009660|Turnaround time (TAT) 25 days
- Thrombophilia. F5 and F2. Detection of R506Q in the F5 gene and G20210A in the F2 gene [2 genes]
Ref.: S-202009661|Turnaround time (TAT) 25 days
- Thrombophilia. MTHFR, F2, F5, and SERPINE1 gene polymorphisms [4 genes]
Ref.: S-202009662 |Turnaround time (TAT) 25 days
- SERPINE1. 5G/4G polymorphism genotyping by RT-PCR [1 gene]
Ref.: S-202313177|Turnaround time (TAT) 25 days
Other services
Real-time PCR (Q-PCR)
Real-time polymerase chain reaction (Q-PCR) is a DNA fragment amplification technique used to genotype a short genomic sequence or test for a specific genetic variant. In hematology, it is used for the detection of thrombophilia-related polymorphisms or the intron 22 inversionin F8 (hemophilia type A).
Hereditary Hemorrhagic and Thromboembolic Diseases:
– F8. Detection of the inversion of intron 22.
– F5. Detection of the R506Q polymorphism.
– F2. Detection of the G20210A polymorphism.
– F5 y F2. Detection of the R506Q + G20210A polymorphism.
– 4-SNP thrombophilia Panel MTHFR, F2, F5, SERPINE1. Simultaneous analysis of F2 (20210G>A), F5 (p.Arg506Gln), MTHFR (c.677C>T), MTHFR (c.1298A>C), and 5G/4G in the 5´UTR region of the SERPINE 1 gene.
Hemochromatosis and Iron Metabolism:
– Hemochromatosis. HFE. Testing for the mutations p.Cys282Tyr, p.His63Asp, and
p.Ser65Cys.
Variant segregation / Family studies
TAT (turnaround time): 2 weeks
Sanger sequencing studies on carriers of variants that have been previously described in the family.
Gene sequencing
TAT (turnaround time): 35 days
Individual gene sequencing and interpretation service. Depending on its size and on the regions of interest, we can offer an approach based on Sanger sequencing or on NGS (enrichment using amplicons or hybridization probes). The NGS-based approach allows detecting copy number variations (CNVs).
MLPA testing
TAT (turnaround time): 35 days
Semiquantitative technique that is widely applied in molecular genetic laboratories and that allows diagnosing pathologies caused by copy number variations and, in some cases, by alterations in DNA methylation. A wide variety of commercial kits are available to test individual genes, gene panels related to specific pathologies, or large chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on MRC-Holland kits.
Real-time polymerase chain reaction (Q-PCR) is a DNA fragment amplification technique used to genotype a short genomic sequence or test for a specific genetic variant. In hematology, it is used for the detection of thrombophilia-related polymorphisms or the intron 22 inversionin F8 (hemophilia type A).
Hereditary Hemorrhagic and Thromboembolic Diseases:
– F8. Detection of the inversion of intron 22.
– F5. Detection of the R506Q polymorphism.
– F2. Detection of the G20210A polymorphism.
– F5 y F2. Detection of the R506Q + G20210A polymorphism.
– 4-SNP thrombophilia Panel MTHFR, F2, F5, SERPINE1. Simultaneous analysis of F2 (20210G>A), F5 (p.Arg506Gln), MTHFR (c.677C>T), MTHFR (c.1298A>C), and 5G/4G in the 5´UTR region of the SERPINE 1 gene.
Hemochromatosis and Iron Metabolism:
– Hemochromatosis. HFE. Testing for the mutations p.Cys282Tyr, p.His63Asp, and
p.Ser65Cys.
TAT (turnaround time): 2 weeks
Sanger sequencing studies on carriers of variants that have been previously described in the family.
TAT (turnaround time): 35 days
Individual gene sequencing and interpretation service. Depending on its size and on the regions of interest, we can offer an approach based on Sanger sequencing or on NGS (enrichment using amplicons or hybridization probes). The NGS-based approach allows detecting copy number variations (CNVs).
TAT (turnaround time): 35 days
Semiquantitative technique that is widely applied in molecular genetic laboratories and that allows diagnosing pathologies caused by copy number variations and, in some cases, by alterations in DNA methylation. A wide variety of commercial kits are available to test individual genes, gene panels related to specific pathologies, or large chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on MRC-Holland kits.
Steps to follow
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5. Result: the report
Via: e-mail and/or through the customer portal
Ask us for more information on our Hematology services
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Anemia and iron metabolism disorders (global panel) – 291 genes
ABCB6, ABCB7, ABCG8, ACD, ACTB, ADA, ADA2, ADAMTS13, ADAR, AK1, AK2, ALAD, ALAS2, ALDOA, AMN, ANGPT1, ANK1, AP3B1, ATP11C, ATP7B, B2M, BMP2, BMP6, BPGM, BRCA1, BRCA2, BRIP1, BTNL2, C15orf41, C3, CASK, CASP10, CD19, CD27, CD3G, CD40LG, CD46, CD59, CD81, CDAN1, CFB, CFH, CFHR1, CFHR3, CFI, CIITA, CLPB, COL4A1, COX4I2, CP, CPOX, CR2, CSF2RA, CSF3R, CTC1, CTLA4, CTSC, CUBN, CXCR2, CXCR4, DCLRE1B, DGKE, DHFR, DKC1, DNAJC21, DNASE1, DNM2, EFL1, EGLN1, EIF2AK3, ELANE, EPAS1, EPB41, EPB42, EPO, EPOR, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FCGR2A, FCGR2B, FECH, FOXP3, FTCD, FTH1, FTL, FUT1, G6PC3, G6PD, GALT, GATA1, GATA2, GCLC, GFI1, GIF, GINS1, GLRX5, GP1BA, GPI, GPX1, GSR, GSS, GYPC, HAMP, HAX1, HBA1, HBA2, HBB, HEPH, HFE, HJV, HK1, HLA-DRB1, HMBS, HMOX1, HOXA11, HP, HPRT1, HSPA9, HYOU1, ICOS, IFNG, IFNGR2, IL2RA, IL2RB, IRAK4, JAGN1, JAK2, KCNN4, KDM6A, KIF23, KLF1, KMT2D, KRAS, LAMTOR2, LARS2, LAT, LCAT, LMBRD1, LPIN2, LRBA, LYST, MAD2L2, MKL1, MMACHC, MMADHC, MS4A1, MTHFD1, MTR, MTRR, NBN, NFKB1, NFKB2, NHLRC2, NHP2, NLRP1, NOP10, NRAS, NT5C3A, PALB2, PARN, PFKM, PGK1, PGM3, PHGDH, PIEZO1, PIGA, PIGM, PIGT, PKLR, PNP, PPOX, PRDX1, PRF1, PRKCD, PTPN22, PUS1, RAB27A, RAC2, RAD51, RAD51C, RAG1, RAG2, RASGRP1, RFWD3, RFX5, RFXANK, RFXAP, RHAG, RMRP, RPL11, RPL15, RPL17, RPL18, RPL19, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SEC23B, SH2B3, SLC11A2, SLC19A2, SLC25A38, SLC2A1, SLC37A4, SLC40A1, SLC46A1, SLC4A1, SLX4, SMARCD2, SPTA1, SPTB, SRP54, SRP72, STAT1, STAT3, STAT4, STEAP3, STIM1, STK4, STN1, TAZ, TCIRG1, TCN2, TERC, TERT, TF, TFR2, THBD, TINF2, TMPRSS6, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF4, TP53, TPI1, TPMT, TREX1, TRNT1, TSR2, TTC7A, UBE2T, UMPS, UROD, UROS, USB1, VHL, VPS13B, VPS45, WAS, WDR1, WFS1, WIPF1, WRAP53, XIAP, XRCC2, YARS2, ZAP70
Hereditary hemolytic anemia – 115 genes
ABCB6, ABCG8, ADA, ADAMTS13, ADAR, AK1, ALAD, ALDOA, ANK1, ATP11C, ATP7B, BPGM, BTNL2, C3, CASK, CASP10, CD19, CD3G, CD40LG, CD46, CD59, CD81, CFB, CFH, CFHR1, CFHR3, CFI, CIITA, COL4A1, CPOX, CR2, CTLA4, DGKE, DNASE1, EPB41, EPB42, FAS, FASLG, FCGR2A, FCGR2B, FECH, FOXP3, G6PD, GALT, GATA1, GCLC, GP1BA, GPI, GPX1, GSR, GSS, GYPC, HBA1, HBA2, HBB, HK1, HLA-DRB1, HMOX1, ICOS, IL2RA, IL2RB, KCNN4, KDM6A, KMT2D, KRAS, LAT, LCAT, LRBA, MS4A1, NBN, NFKB1, NFKB2, NHLRC2, NLRP1, NRAS, NT5C3A, PFKM, PGK1, PGM3, PIEZO1, PIGA, PIGM, PIGT, PKLR, PNP, PRKCD, PTPN22, RAG1, RAG2, RASGRP1, RFX5, RFXANK, RFXAP, RHAG, SLC2A1, SLC4A1, SPTA1, SPTB, STAT1, STAT3, STAT4, STIM1, THBD, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF4, TPI1, TREX1, TTC7A, UROD, UROS, WAS, WIPF1, ZAP70
Alpha-thalassemia. Sequencing of the HBA1 and HBA2 genes – 2 genes
HBA1, HBA2
Beta-thalassemia. Sequencing of the HBB gene – 1 gene
HBB
Sickle cell anemia. Sequencing of the HBB gene by Sanger – 1 gene
HBB
Spherocytosis / elliptocytosis – 7 genes
ANK1, EPB41, EPB42, GYPC, SLC4A1, SPTA1, SPTB
Erythroenzymopathies – 2 genes
G6PD, PKLR
Aplastic anemia – 91 genes
ACD, ADA2, ALAS2, BRCA1, BRCA2, BRIP1, C15orf41, CD27, CDAN1, COX4I2, CTC1, DCLRE1B, DKC1, DNAJC21, EFL1, ELANE, EPO, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GATA1, GATA2, GFI1, HOXA11, IFNG, KIF23, KLF1, LPIN2, MAD2L2, NBN, NHP2, NOP10, PALB2, PARN, PIGA, PRF1, RAD51, RAD51C, RFWD3, RPL11, RPL15, RPL17, RPL18, RPL19, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RTEL1, SAMD9, SAMD9L, SBDS, SEC23B, SLX4, SRP54, SRP72, STN1, TCIRG1, TERC, TERT, TINF2, TSR2, UBE2T, USB1, WRAP53, XIAP, XRCC2
Fanconi anemia – 22 genes
BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2
Dyskeratosis congenita – 25 genes
ACD, CTC1, DCLRE1B, DKC1, DNAJC21, DUT, FZD6, LMX1B, MDM4, NAF1, NHP2, NOP10, NPM1, PARN, POT1, RPA1, RTEL1, STN1, TERC, TERT, TINF2, TYMS, USB1, WRAP53, ZCCHC8
Diamond-Blackfan syndrome – 29 genes
ADA2, EPO, GATA1, RPL11, RPL15, RPL17, RPL18, RPL19, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, TSR2
Congenital dyserythropoietic anemia – 9 genes
ALAS2, C15orf41, CDAN1, COX4I2, GATA1, KIF23, KLF1, LPIN2, SEC23B
Sideroblastic anemia – 12 genes
ABCB7, ALAS2, GLRX5, HFE, HSPA9, LARS2, PUS1, SLC19A2, SLC25A38, STEAP3, TRNT1, YARS2
Megaloblastic anemia – 18 genes
AMN, CUBN, DHFR, FTCD, GIF, HPRT1, LMBRD1, MMACHC, MMADHC, MTHFD1, MTR, MTRR, PHGDH, PRDX1, SLC19A2, SLC46A1, UMPS, WFS1
Erythrocytosis – 11 genes
BPGM, EGLN1, EPAS1, EPO, EPOR, HBA1, HBA2, HBB, JAK2, SH2B3, VHL
Porphyria – 10 genes
ALAD, ALAS2, CPOX, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS
Hemochromatosis and iron metabolism disorders – 33 genes
ALAS2, ABCB7, BMP2, BMP6, B2M, CDAN1, COX4I2, CP, C15orf41, FTH1, FTL, GATA1, GLRX5, HAMP, HEPH, HFE, HJV, HSPA9, KIF23, KLF1, LARS2, LPIN2, PUS1, SEC23B, SLC11A2, SLC19A2, SLC25A38, SLC40A1, STEAP3, TF, TFR2, TRNT1, YARS2
Hemochromatosis – 7 genes
BMP2, FTH1, HAMP, HFE, HJV, SLC40A1, TFR2
Hemochromatosis. Detection of the mutations p.Cys282Tyr, p.His63Asp and p.Ser65Cys in the HFE by RT-PCR – 3 mutations
HFE
Thrombophilia and Hemostasis – 176 genes
ABCC6, ABCG5, ABCG8, ACTA2, ACTN1, ACVRL1, ADA2, ADAMTS13, ALOX5AP, ALPK3, ANKRD26, ANO6, ANTXR1, ARPC1B, AP3B1, APOE, APOH, APP, ARHGEF17, A2ML1, BLOC1S3, ,BLOC1S6, BMP10, BMPR1A, BMPR2, BRAF, CALR, CBL, CBS, CCM2, CD36, CDH1, CDH5, COL3A1, COL4A1, COL4A2, CYBA, CYCS, DDAH2, DIAPH1, DTNBP1, ELMO2, ELN, ENG, EPHB4, ETV6, F10, F11, F12, F13A1, F13B, F2, F3, F5, F7, F8, F9, FGA, FGB, FGG, FLI1, FLNA, FLT4, FYB1, GATA1, GDF15, GDF2, GFI1B, GGCX, GNAQ, GP1BA, GP1BB, GP6, GP9, GUCY1A1, HABP2, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HRG, HTRA1, IL6, ITGA2, ITGA2B, ITGB3, JAG1, JAK2, KAT6B, KDSR, KDR, KLKB1, KNG1, KRAS, KRIT1, LMAN1, LYST, LZTR1, MAP2K1, MAP2K2, MAP3K8, MCFD2, MECOM, MPL, MTHFR, MYH9, NBEA, NBEAL2, NF1, NOS3, NOTCH3, NRAS, NRP2, P2RY12, PCNT, PDCD10, PIK3CA, PLA2G4A, PLAT, PLAU, PLG, PPP1CB, PRKACG, PRKCH, PROC, PROS1, PROZ, PTGS1, PTPN11, RAF1, RASA1, RASA2, RASGRP2, RBM8A, RIT1, RNF213, RRAS, RUNX1, SAMHD1, SERPINC1, SERPINE1, SERPIND1, SERPINE2, SHOC2, SH2B3, SLC2A10, SLFN14, SMAD1, SMAD4, SMAD6, SOS1, SOS2, SOX17, SPRED1, SPRY1, SRC, STIM1, SYNGAP1, TBXA2R, TBXAS1, TEK, TFPI, THBD, THPO, THSD1, TLN1, TLN2, TREX1, TUBB1, VKORC1, VWF, WAS, WIPF1
Hemostasis and bleeding – 148 genes
ABCC6, ABCG5, ABCG8, ACTA2, ACTN1, ACVRL1, ADA2, ADAMTS13, ANKRD26, ALPK3, ANO6, ANTXR1, AP3B1, APP,APOH, ARHGEF17, ARPC1B, A2ML1, BLOC1S3, BLOC1S6, BMP10, BMPR2, BMPR1A, BRAF, CBL, CCM2, CD36, COL3A1, COL4A1, COL4A2, CYCS, DDAH2, DIAPH1, DTNBP1, ELMO2, ELN, ENG, EPHB4, ETV6, F10, F11, F12, F13A1, F13B, F2, F3, F5, F7, F8, F9, FGA, FGB, FGG, FLT4, FLI1, FLNA, FYB1, GATA1, GDF2, GFI1B, GGCX, GNAQ, GP1BA, GP1BB, GP6, GP9, GUCY1A1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, IL6, ITGA2, ITGA2B, ITGB3, JAG1, KAT6B, KDSR, KDR, KLKB1, KNG1, KRAS, KRIT1, LMAN1, LYST, LZTR1, MAP2K1, MAP2K2, MAP3K8, MECOM, MCFD2, MPL, MYH9, NBEAL2, NBEA, NF1, NRAS, NRP2, P2RY12, PDCD10, PCNT, PIK3CA, PLA2G4A, PLAT, PLAU, PPP1CB, PRKACG, PROZ, PTGS1, PTPN11, RAF1, RASA1, RASA2, RASGRP2, RBM8A, RIT1, RNF213, RRAS, RUNX1, SAMHD1, SERPINE1, SERPINE2, SHOC2, SLFN14, SLC2A10, SMAD1, SMAD4, SOS1, SOS2, SOX17, SPRED1, SPRY1, SRC, STIM1, SYNGAP1, TBXA2R, TBXAS1, TEK, THSD1, THPO, TUBB1, VKORC1, VWF, WAS, WIPF1
Thrombocytopenia and platelet dysfunction – 84 genes
A2ML1, ABCG5, ABCG8, ACTN1, ADAMTS13, ALPK3, ANKRD26, ANO6, AP3B1, ARPC1B, BLOC1S3, BLOC1S6, BRAF, CBL, CD36, CYCS, DIAPH1, DTNBP1, ETV6, FLI1, FLNA, FYB1, GATA1, GFI1B, GP1BA, GP1BB, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, ITGA2, ITGA2B, ITGB3, KAT6B, KDSR, KRAS, LYST, LZTR1, MAP2K1, MAP2K2, MAP3K8, MECOM, MPL, MYH9, NBEA, NBEAL2, NF1, NRAS, P2RY12, PLA2G4A, PLAT, PLAU, PPP1CB, PRKACG, PTGS1, PTPN11, RAF1, RASA1, RASA2, RASGRP2, RBM8A, RIT1, RRAS, RUNX1, SHOC2, SLFN14, SOS1, SOS2, SPRED1, SPRY1, SRC, STIM1, SYNGAP1, TBXA2R, TBXAS1, THPO, TUBB1, WAS, WIPF1
Hermansky-Pudlak syndrome – 21 genes
AP3B1, AP3D1, BLOC1S3, BLOC1S6, DKC1, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, OCA2, SFTPB, SFTPC, TERC, TERT, TINF2, TYR, TYRP1
Bernard-Soulier syndrome – 3 genes
GP1BA, GP1BB, GP9
RASopathies (Noonan, Costello, LEOPARD) – 27 genes
ALPK3, BRAF, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, CBL, MRAS, PPP1CB, SOS2, SPRED1, A2ML1, KAT6B, MAP3K8, NF1, RASA1, RASA2, RRAS, SPRY1, SYNGAP1
Coagulation factors – 25 genes
F2, F3, F5, F7, F8, F10, F11, F12, F13A1, F13B, FGA, FGB, FGG, KLKB1, LMAN1, MCFD2, SERPINE1, VWF, GGCX, GP1BA, KNG1, PROZ, SERPINE2, VKORC1
Hemophilia A. Sequencing of the F8 gene – 1 gene
F8
Hemophilia B. Sequencing of the F9 gene – 1 gene
F9
Hemophilia F8 and F9 – 2 genes
F8, F9
Hemofilia-like diseases – 7 genes
F8, F9, GGCX, LMAN1, MCFD2, VKORC1, VWF
Von Willebrand diseases – 1 gene
VWF
Fibrinogen disorders – 3 genes
FGA, FGB, FGG
Hemorrhagic vasculopathies – 40 genes
ABCC6, ACTA2, ACVRL1, ADA2, ANTXR1, APP, ARHGEF17, BMP10, BMPR1A, BMPR2, CCM2, COL3A1, COL4A1, COL4A2, DDAH2, ELMO2, ELN, ENG, EPHB4, FLT4, GDF2, GNAQ, GUCY1A1, IL6, JAG1, KDR, KRIT1, NRP2, PCNT, PDCD10, PIK3CA, RASA1, RNF213, SAMHD1, SLC2A10, SMAD1, SMAD4, SOX17, TEK, THSD1
Hereditary hemorrhagic telangiectasia – 12 genes
ACVRL1, BMP10, BMPR1A, BMPR2, ELMO2, ENG, EPHB4, GDF2, RASA1, SMAD1, SMAD4, TEK
Thrombophilia (extended panel) – 30 genes
ADAMTS13, ALOX5AP, APOH, CALR, CBS, CDH1, F12, F2, F5, F9, FGA, FGB, FGG, HABP2, HRG, MPL, MTHFR, NOS3, PLAT, PLG, PRKCH, PROC, PROS1, PROZ, SERPINC1, SERPIND1, SH2B3, TFPI, THBD, THPO
Thrombotic vasculopathies – 43 genes
ADA2, ADAMTS13,ALOX5AP, APOH, APP, CALR, CBS, CDH1, CDH5, CYBA, F2, F5, F9, F12, FGA, FGB, FGG, GDF15, GUCY1A1, HABP2, HRG, HTRA1, MTHFR, MPL, NOS3, NOTCH3, PLAT, PLG, PRKCH, PROC, PROS1, PROZ, SAMHD1, SERPINC1, SERPIND1, SH2B3, SMAD6, TFPI, THBD, THPO, TLN1, TLN2, TREX1
Polycythemia vera – 1 gene
JAK2
Antiplatelet and anticoagulation pharmacogenetics – 13 genes
CYP2C19, CYP2C18, CYP2C9, CYP4F2, VKORC1, ABCB1, CALU, CES1, GGCX, GP1BA, HLA-DPB1, LTC4S, PTGS1
Primary myelofibrosis – 3 genes
JAK2, MPL, CALR
Essential thrombocythemia – 3 genes
JAK2, MPL, CALR
Chronic myeloid leukemia – 2 genes
BCR/ALB1 rearrangements. Philadelphia chromosome.
Chronic neutrophilic leukemia – 1 gene
CSF3R
Mastocytosis – 1 gene
c-KIT
Myeloid and lymphoid neoplasms with eosinophilia – 3 genes
PDGFRA, PDGFRB, FGFR1
Idiopathic hypereosinophilia – 2 genes
FIP1L1/PDGFRA rearrangement
Myelodysplastic syndromes – 2 genes
SF3B1, TP53
Acute myeloid leukemia – 5 genes
CEBPA, NPM1, FLT3 and AML1/ETO rearrangement
Acute promyelocytic leukemia – 2 genes
PML/RARa rearrangement
Acute lymphoblastic leukemia – 4 genes
TEL/AML-1 rearrangement and MLL/AF4 rearrangement
Hairy cell leukemia – 1 gene
BRAF
Mantle cell lymphoma – 2 genes
BCL1/JH rearrangement
Follicular lymphoma – 2 genes
IgH/BCL2 rearrangement
Macrogloblulinemia – 2 genes
MYD88, CXCR4
Glucose-6-phosphate dehydrogenase deficiency. Sequencing of the G6PD gene – 1 gene
G6PD
Hemophilia A. Detection of the intron 22 inversion of the F8 gene – 1 gene
F8
Thrombotic thrombocytopenic purpura and thrombotic microangiopathy. Sequencing of the ADAMTS13 gene – 1 gene
ADAMTS13
Thrombophilia. Factor V Leiden deficiency. Detection of the R506Q polymorphism in the F5 gene – 1 gene
F5
Thrombophilia. Detection of the G20210A polymorphism in the F2 gene – 1 gene
F2
Thrombophilia. F5 and F2. Detection of R506Q in the F5 gene and G20210A in the F2 gene – 2 genes
F2, F5
Thrombophilia. MTHFR, F2, F5, and SERPINE1 gene polymorphisms – 4 genes
F2, F5, MTHFR, SERPINE1
SERPINE1. 5G/4G polymorphism genotyping by RT-PCR – 1 gene
SERPINE1