Hematology

• Anemias and Iron Metabolism Global Panel [291 genes]
• Hereditary Hemolytic Anemia Panel [115 genes]
• Alpha-Thalassemia [2 genes]
• Beta-Thalassemia [1 gene]
• Sickle Cell Disease [1 gene]
• Spherocytosis/Elliptocytosis Panel [7 genes]
• Red Blood Cell Enzymopathies Panel [2 genes]
• Aplastic Anemia Panel [91 genes]
• Fanconi Anemia Panel [22 genes]
• Dyskeratosis Congenita Panel [16 genes]
• Diamond-Blackfan Anemia Panel [29 genes]
• Dyserythropoietic Anemia Panel [9 genes]
• Sideroblastic Anemia Panel [12 genes]
• Megaloblastic Anemia Panel [18 genes]
• Erythrocytosis Panel [11 genes]
• Porphyria Panel [10 genes]

• Anemias and Iron Metabolism Global Panel [291 genes]
• Hemochromatosis and Iron Metabolism Disorders Panel [33 genes]
• Hemochromatosis Panel [7 genes]

• Thrombophilia and Hemostasis global panel [176 genes + Pharma + Polygenic Risk Score]
• Hemostasis and Bleeding extended panel [148 genes]
• Thrombocytopenia and Platelet Disorders [84 genes]
• Hermansky-Pudlak Syndrome [21 genes]
• Bernard-Soulier Syndrome [3 genes]
• RASopathies Syndromes [26 genes]
• Coagulation Factors panel [25 genes]
• Hemophilia
• Hemophilia A [1 gene]
• Hemophilia B [1 gene]
• Hemophilia F8 and F9 panel [2 genes]
• Hemophilia-like extended panel [7 genes]
• Enfermedad de Von Willebrand [2 genes]
• Enfermedades del Fibrinógeno [3 genes]
• Hemorrhagic Vasculopathies panel [40 genes + Farma]
• Hemorrhagic Telangiectasia panel [12 genes]

• Thrombophilia and Hemostasis global panel [176 genes + Pharma + Polygenic Risk Score]
• Thrombophilia Basic Panel [5 genes + Pharma + Polygenic Risk Score]
• Thombophilia Extended Panel [30 genes + Pharma + Polygenic Risk Score]
• Thrombosis-Related Vasculopathies panel [43 genes + Pharma + Polygenic Risk Score]
• Thrombophilia Polygenic Risk Score panel [52 SNPs]

• Antiplatelet and Anticoagulation Pharmacogenetics Panel [13 genes]
• Clopidogrel Pharmacogenetics Genotyping [4 variants in CYP2C19]

Myeloid neoplasms:

• Myeloproliferative neoplasms
• Polycythemia vera[JAK2]
• Primary myelofibrosis[JAK2, MPL, CALR]
• Essential thrombocythemia[JAK2, MPL, CALR]
• Chronic myeloid leukemia[BCR/ABL1]
• Chronic neutrophilic leukemia[CSF3R]
• Mastocytosis[c-KIT]
• Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1
• Idiopathic hypereosinophilia[FIP1L1-PDGFRA]
• Myelodysplastic syndromes[SF3B1, TP53]
• Acute myeloid leukemias
• Acute myeloid leukemia[AML1/ETO, CEBPA, NPM1, FLT3]
• Acute promyelocytic leukemia[PML-RARa]

Lymphoid neoplasms:

• Lymphoblastic leukemias [B-cell clonality], [T-cell clonality ]
• Acute lymphoblastic leukemia[TEL/AML-1], [MLL/AF4]
• Hairy cell leukemia[BRAF]
• Lymphomas:
• Mantle cell lymphoma[BCL1-JH]
• Follicular lymphoma[IgH/BCL2]
• Macroglobulinemia[MYD88], [CXCR4]

Hematopoietic chimerisms:

• Informative chimerism marker screening (RT-PCR)
• Chimerism follow-up via dPCR (RT-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.

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.