HEMATOLOGICAL DISORDERS
Hematological disorders, particularly disorders of blood coagulation and hemoglobin production, can lead to serious health problems. The most common of these hereditary disorders include antithrombin deficiency, factor VIII deficiency, factor VII deficiency, and the factor V Leiden variant, which affect the blood’s ability to clot.
Request Test
- Sample material: EDTA whole blood
- Testing method: Next-generation sequencing (NGS) (if applicable, Sanger sequencing, MLPA, molecular diagnostics using PCR)
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC SERVICES
The following table presents our indication-specific testing services in this area:
| INDICATION | ANALYSIS |
| Antithrombin deficiency | Single gene analysis (SERPINC1) |
| Factor VIII deficiency | Gene panel |
| Factor VII deficiency | Single gene analysis (F7) |
| Factor V Leiden variant | Mutation analysis (F5 (rs6025)) |
| Factor X deficiency | Single gene analysis (F10) |
| Fibrinogen deficiency | Gene panel |
| Protein C deficiency | Single gene analysis (PROC) |
| Protein S deficiency | Single gene analysis (PROS) |
| Prothrombin variant | Mutation analysis (F2(rs1799963)) |
| Spherocytosis | Gene panel |
| Thalassemia | Gene panel |
| Thrombophilia | Gene panel |
The genes examined in the respective gene panels are always based on the current versions of Genomics England PanelApp, PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic clinical presentation, it is possible to request exome sequencing based on phenotypic features.