| Code | Test Name | Methodology | Specimen |
|---|---|---|---|
| F001 | Whole Exome Sequencing (WES) Trio | Next Generation Sequencing (NGS) | 6 mL EDTA (biological parents and Index case) |
| F002 | Whole Exome Sequencing (WES) | Next Generation Sequencing (NGS) | 6 mL EDTA |
| F003 | Carrier Scan (600 genes) | Next Generation Sequencing (NGS) | 6 mL EDTA Blood |
| F004 | Whole Genome Sequencing (WGS) | Next Generation Sequencing (NGS) | 6 mL EDTA Blood |
| G004 | KLF-3 (Kruppel-Like Factor3) gene | Sanger Sequencing | 3mL EDTA Blood |
| G006 | ASHP (Alpha Hemoglobin Stabilizing Protein) | Sanger Sequencing | 3mL EDTA Blood |
| G007 | DKC (dyskeratosiscongenita) common variants | PCR-RFLP | 3mL EDTA Blood |
| G008 | AE-1SLC4A1 common variants | PCR-RFLP | 3mL EDTA Blood |
| G009 | AE-1(SLC4A1) gene | Sanger sequencing | 3mL EDTA Blood |
| G012 | DBA (Diamond-Blackfan anemia) RPS19 (ribosomal protein S19) | Sanger sequencing | 3mL EDTA Blood |
| G013 | DBA (Diamond-Blackfan anemia) RPS 24 (ribosomal protein S24) | Sanger sequencing | 3mL EDTA Blood |
| G014 | MPD/JAK2 (Janus Kinase 2) | PCR-RFLP | 3mL EDTA Blood |
| G015 | MPD/JAK2 (Janus Kinase 2) (Exon 11-12) | Sanger Sequencing | 3mL EDTA Blood |
| I001 | Factor V-Leiden/Hong Kong | PCR-RFLP | 3mL EDTA Blood |
| I002 | Factor II/prothrombin/202102A | PCR-RFLP | 3mL EDTA Blood |
| I003 | Anti-thrombin-Siriraj | PCR-RFLP | 3mL EDTA Blood |
| I005 | Package-Screening-Thrombophilia | PCR-RFLP | 3mL EDTA Blood |
| 008 | ADAMTS-13 | Sanger Sequencing | 3mL EDTA Blood |
| K001 | HJV (Hemochromatosis Type 2 (Juvenile) | Sanger Sequencing | Direct whole gene sequence |
| K002 | TMPRSS6 (Transmembrane Protease, Serine 6) | PCR-RFLP | 3mL EDTA Blood |
| K003 | TMPRSS6 gene (Transmembrane Protease, Serine 6) | Sanger Sequencing | 3mL EDTA Blood |
| K004 | HFE (hemochromatosis) | PCR-RFLP | 3mL EDTA Blood |
| K005 | HFE gene (hemochromatosis) | Sanger Sequencing | 3mL EDTA Blood |
| K006 | Ferroportin/SLC40A1 (Solute Carrier Family 40 (Iron-Regulated Transporter), Member 1)-common varaint | PCR-RFLP | 3mL EDTA Blood |
| K007 | Ferroportin/SLC40A1 gene (Solute Carrier Family 40 (Iron-Regulated Transporter) , Member | Sanger Sequencing | 3mL EDTA Blood |
| K008 | HAMP gene (Hepcidin Antimicrobial Peptide) | Sanger Sequencing | 3mL EDTA Blood |
| K009 | TRF-2 gene (Transferrin Receptor 2) | Sanger Sequencing | 3mL EDTA Blood |
| L002 | G6PD gene (Glucose-6- Phosphate Dehydrogenase) | Sanger Sequencing | 3mL EDTA Blood |
| L004 | PKLR gene (Pyruvate Kinase, Liver And RBC) | Sanger Sequencing | 3mL EDTA Blood |
| M006 | PRF1 (Perforin) | Sanger Sequencing | 3mL EDTA Blood |
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