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

    • Hereditary hemochromatosis [7 genes]

      Ref.: S-202110079|Turnaround time (TAT) 25 days

    • Hemochromatosis. Detection of the mutations p.Cys282Tyr, p.His63Asp and p.Ser65Cys in the HFE gene by RT-PCR [3 mutations]

      Ref.: S-202212451|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

    • Hereditary hemorrhagic telangiectasia [12 genes]

      Ref.: S-201906969|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 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.