Blood Disorder Genetics and Thalassemia Department

1    Prenatal diagnosis for  Thalassaemia - 1st CVS
2    Prenatal diagnosis for Thalassaemia - 2nd CVS
3    Diagnostic samples for  Thalassaemia 
4    Alpha and beta locus MLPA analysis
10    Molecular Diagnosis for Thalassaemia
13    Sequencing of globin gene
14    DNA extraction from blood
15    DNA extraction from tissue
16    Pre-implantation genetic diagnosis (PGD) (private only)
16.3    Pre-implantation genetic diagnosis (PGD) (government)
17    NIPD for X-linked disorders
18    Non Invasive prenatal diagnosis for fetal RHD status (private only)
19    Non invasive prenatal diagnosis for β-thalassaemia
20    Epo test (private only)
21    sTfR test (private only)
22    LIP test (private only)
23    NTBI test (private only)
24    Oxidative stress test (private only)
25    Modifiers of β-thalassaemia test (private only)
26    Targeted NGS panel for the molecular diagnosis of rare anaemias (RA-NGS) 
27.1    Targeted in silico gene panel using CES for the molecular diagnosis of non-malignant haematological diseases including iron metabolism and heme synthesis disorders (Haem-NGS) 
27.2    Targeted in silico gene panel using WES for the molecular diagnosis of non-malignant haematological diseases including iron metabolism and heme synthesis disorders (Haem-NGS) 
28.1    Targeted in silico gene panel using CES for the molecular diagnosis of Hepatological diseases (Hep-NGS) 
28.2    Targeted in silico gene panel using WES for the molecular diagnosis of Hepatological diseases (Hep-NGS) 
29.1    Targeted in silico gene panel using CES for the molecular diagnosis of Bone diseases (Ost-NGS) 
29.2    Targeted in silico gene panel using WES for the molecular diagnosis of Bone diseases (Ost-NGS) 
30.1    Targeted in silico gene panel using CES for oxidative stress (OXIS-NGS) 
30.2    Targeted in silico gene panel using WES for oxidative stress (OXIS-NGS)
31    Whole exome sequencing (WES) (Single) 
32    Whole exome sequencing (WES) (Trio) 
33    Clinical exome sequencing (CES) (Single) 
34    Clinical exome sequencing (CES) (Trio) 
35    Open up of NGS data from WES after in silico panel
36    Open up of NGS data from CES after in silico panel 
38    Confirmation of SNVs with Sanger Sequencing (SNV-SANGER)
39    Trio in silico panel from WES ( applied for all above disease specific panels)
40    Trio in silico panel from CES (applied for all above disease specific panels)