Molecular Genetics Thalassaemia Department (Code 25)
| CODE | TYPE OF SERVICE | UOM |
| 1 | Prenatal diagnosis for Thalassaemia - 1st CVS | /prenatal |
| 2 | Prenatal diagnosis for Thalassaemia - 2nd CVS | /prenatal |
| 3 | Diagnostic samples for Thalassaemia | /sample/site |
| 4 | Alpha and beta locus MLPA analysis | /sample |
| 10 | Molecular Diagnosis for Thalassaemia | /sample |
| 13 | Sequencing of globin gene | /sample |
| 14 | DNA extraction from blood | /extraction |
| 15 | DNA extraction from tissue | /extraction |
| 16 | Pre-implantation genetic diagnosis (PGD) | /case |
| 17 | NIPD for X-linked disorders | /sample |
| 18 | Non Invasive prenatal diagnosis for fetal RHD status (private only) | /sample |
| 19 | Non invasive prenatal diagnosis for β-thalassaemia | /sample |
| 20 | Epo test (private only) | /sample |
| 21 | sTfR test (private only) | /sample |
| 22 | LIP test (private only) | /sample |
| 23 | NTBI test (private only) | /sample |
| 24 | Oxidative stress test (private only) | /sample |
| 25 | Modifiers of β-thalassaemia test (private only) | /sample |
| 26 | Targeted NGS panel for the molecular diagnosis of rare anaemias (RA-NGS) | |
| 27-30 | Targeted in silico gene panel | |
| 31/32 | Whole exome sequencing (WES) | |
| 33/34 | Clinical exome sequencing (CES) | |
| 35/36 | Open up of NGS data after in silico panel | /sample |
| 38 | Confirmation of SNVs with Sanger Sequencing (SNV-SANGER) | /sample |
| 39 | Trio in silico panel from WES ( applied for all above disease specific panels) | /family trio |
| 40 | Trio in silico panel from CES (applied for all above disease specific panels) | /family trio |
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