Sequencing Panels

Turnaround time (TAT): 5 weeks

Anemias
  • Anemias and Iron Metabolism Global Panel [291 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]
    • 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]
Hemochromatosis and Iron Metabolism Disorders
  • Anemias and Iron Metabolism Global Panel [291 genes]
  • Hemochromatosis and Iron Metabolism Disorders Panel [33 genes]
  • Hemochromatosis Panel [7 genes]
Hemostasis
  • Thrombophilia and Hemostasis global panel [176 genes + Pharma + Polygenic Risk Score]
  • Hemostasis and Bleeding extended panel [148 genes]
    • Hermansky-Pudlak Syndrome [21 genes]
    • Bernard-Soulier Syndrome [3 genes]
    • RASopathies Syndromes [26 genes]
      • 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 Telangiectasia panel [12 genes]
Thrombophilia
  • 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]
    • Thrombophilia Polygenic Risk Score panel [52 SNPs]
Pharmacogenetics: Hemostasis and Thrombophilia
  • Antiplatelet and Anticoagulation Pharmacogenetics Panel [13 genes]
  • Clopidogrel Pharmacogenetics Genotyping [4 variants in CYP2C19]
Oncohematology
    Myeloid 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 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]
    • 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)

Other services

Exome sequencing

Check all the exomes that we offer, through Imegen's website, with the following link:

See all exomes
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.