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NGS Hypothyreodie

Panel naam NGS Hypothyreodie
Panel methode Targeted NGS
Panel versie ** HTv4
Panel kwaliteit *** A
Core-NL Geen core-NL genen inbegrepen
CNV analyse Ja
Locatie Locatie AMC
Genen (77) 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
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
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
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


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