| Panel naam | NGS Hypothyreodie |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | HTv5 |
| Panel kwaliteit *** | A |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie AMC |
| Genen (80) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ALB | A | 100.00 | 100.00 | Abnormal (plasma) transport protein | |
| ANOS1 | A | 100.00 | 100.00 | Central hypothyroidism | |
| ARNT2 | A | 100.00 | 100.00 | Central hypothyroidism | |
| BMP4 | A | 100.00 | 100.00 | Central hypothyroidism | |
| CDCA8 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| CDON | A | 100.00 | 100.00 | Central hypothyroidism | |
| CHD7 | A | 100.00 | 100.00 | Central hypothyroidism | |
| CRYM | A | 100.00 | 100.00 | Decreased sensitivity to thyroid hormone | |
| DIO1 | A | 100.00 | 100.00 | Decreased sensitivity to thyroid hormone | |
| DIO2 | A | 100.00 | 100.00 | Decreased sensitivity to thyroid hormone | |
| DIO3 | A | 100.00 | 100.00 | Decreased sensitivity to thyroid hormone | |
| DUOX1 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| DUOX2 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| DUOXA1 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| DUOXA2 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| EIF2S3 | A | 100.00 | 100.00 | Central hypothyroidism | |
| FGF8 | A | 100.00 | 100.00 | Central hypothyroidism | |
| FGFR1 | A | 100.00 | 100.00 | Central hypothyroidism | |
| FOXA2 | A | 100.00 | 100.00 | Central hypothyroidism | |
| FOXE1 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| GBP1 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| GLI2 | A | 100.00 | 100.00 | Central hypothyroidism | |
| GLI3 | A | 100.00 | 100.00 | Central hypothyroidism | |
| GLIS3 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| GNAS | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| GPR161 | A | 100.00 | 100.00 | Central hypothyroidism | |
| HESX1 | A | 100.00 | 100.00 | Central hypothyroidism | |
| HOXA3 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| HOXB3 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| HOXD3 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| IGSF1 | A | 100.00 | 100.00 | Central hypothyroidism | |
| IRS4 | A | 100.00 | 100.00 | Central hypothyroidism | |
| IYD | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| JAG1 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| LEPR | A | 100.00 | 100.00 | Central hypothyroidism | |
| LHX3 | A | 100.00 | 100.00 | Central hypothyroidism | |
| LHX4 | A | 100.00 | 100.00 | Central hypothyroidism | |
| NFKB2 | A | 100.00 | 100.00 | Central hypothyroidism | |
| NKX2-1 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| NKX2-5 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| NTN1 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| OTX2 | A | 100.00 | 100.00 | Central hypothyroidism | |
| PAX6 | A | 100.00 | 100.00 | Central hypothyroidism | |
| PAX8 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| PCSK1 | A | 100.00 | 100.00 | Central hypothyroidism | |
| PITX1 | A | 100.00 | 100.00 | Central hypothyroidism | |
| POU1F1 | A | 100.00 | 100.00 | Central hypothyroidism | |
| PROK2 | A | 100.00 | 100.00 | Central hypothyroidism | |
| PROKR2 | A | 100.00 | 100.00 | Central hypothyroidism | |
| PROP1 | A | 100.00 | 100.00 | Central hypothyroidism | |
| RAX | A | 100.00 | 100.00 | Central hypothyroidism | |
| RNPC3 | A | 100.00 | 100.00 | Central hypothyroidism | |
| ROBO1 | A | 100.00 | 100.00 | Central hypothyroidism | |
| SECISBP2 | A | 100.00 | 100.00 | Decreased sensitivity to thyroid hormone | |
| SERPINA7 | A | 100.00 | 100.00 | Abnormal (plasma) transport protein | |
| SHH | A | 100.00 | 100.00 | Central hypothyroidism | |
| SLC16A10 | A | 100.00 | 100.00 | Decreased sensitivity to thyroid hormone | |
| SLC16A2 | A | 100.00 | 100.00 | Decreased sensitivity to thyroid hormone | |
| SLC26A4 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| SLC26A7 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| SLC5A5 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| SLCO1C1 | A | 100.00 | 100.00 | Decreased sensitivity to thyroid hormone | |
| SOX2 | A | 100.00 | 100.00 | Central hypothyroidism | |
| SOX3 | A | 100.00 | 100.00 | Central hypothyroidism | |
| TBL1X | A | 100.00 | 100.00 | Central hypothyroidism | |
| TBX1 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| TCF7L1 | A | 100.00 | 100.00 | Central hypothyroidism | |
| TG | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| TGIF1 | A | 100.00 | 100.00 | Central hypothyroidism | |
| THRA | A | 100.00 | 100.00 | Decreased sensitivity to thyroid hormone | |
| THRB | A | 100.00 | 100.00 | Decreased sensitivity to thyroid hormone | |
| TPO | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| TPST2 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| TRH | A | 100.00 | 100.00 | Central hypothyroidism | |
| TRHR | A | 100.00 | 100.00 | Central hypothyroidism | |
| TRPC4AP | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| TSHB | A | 100.00 | 100.00 | Central hypothyroidism | |
| TSHR | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism | |
| TTR | A | 100.00 | 100.00 | Abnormal (plasma) transport protein | |
| TUBB1 | A | 100.00 | 100.00 | Thyroidal (primairy) hypothyroidism |
| Indicatie(s) |
|---|
| Afwijkend (plasma) transporteiwit |
| Congenitale centrale hypothyreoïdie |
| Hypothyreoïdie |
| Thyreoidale (primaire) hypothyreoïdie |
| Verminderde gevoeligheid voor schildklierhormoon |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C