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Tests / Endocrine Disorders / Thyroidal hypothyroidism

Thyroidal hypothyroidism

  • NGS Hypothyroidism

  • FOXE1 Del/Dup analysis

  • PAX8 Del/Dup analysis

  • TPO Del/Dup analysis

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    • Birt-Hogg-Dubé syndrome BHD
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    • Breast-ovarian cancer
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      • Arrhythmogenic right ventricular dysplasia/cardiomyopathy ARVD/ARVC
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      • Cardiomyopathy CM
      • Carney complex type 1
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      • Danon disease
      • Dilated cardiomyopathy DCM
      • Dilated cardiomyopathy with woolly hair and keratoderma Carvajal syndrome
      • Fabry disease
      • Holt-Oram syndrome
      • Hypertrophic cardiomyopathy HCM
      • Jervell-Lange Nielsen syndrome 2 JLNS2
      • Jervell-Lange Nielsen syndrome JLNS
      • Limb-Girdle muscular dystrophy
      • Long QT syndrome LQT
      • Non compaction cardiomyopathy NCCM
      • Paroxysmal ventricular fibrillation
      • Restrictive cardiomyopathy RCM
      • Short QT syndrome
      • Sick sinus syndrome
      • Sudden cardiac death
      • Ventricular fibrillation
      • Wolff-Parkinson-White syndrome
    • Vascular Malformations
      • Capillary malformation arteriovenous malformation CM-AVM
      • Pulmonary hypertension primary
      • Vascular Malformations
      • Venous malformations
  • Connective Tissue Disorders
    • Aortic valve disease
    • Arterial tortuosity syndrome
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    • Brittle cornea syndrome
    • Bruck syndrome
    • Congenital contractural arachnodactyly
    • Craniofacial dysmorphism
    • Cutis laxa
    • Dentinogenesis imperfecta
    • Ectopia lentis
    • Ehlers-Danlos syndrome EDS
    • Ehlers-Danlos syndrome vascular type
    • Fibrodysplasia ossificans progressiva FOP
    • Geleophysic dysplasia
    • Hypophosphatasia
    • Kniest dysplasia
    • Larsen syndrome
    • Lens luxation
    • Linkeropathies
    • Loeys-Dietz syndrome (LDS)
    • Lysyl Hydroxylase 3 deficiency LH3
    • Marfan syndrome
    • Marshall syndrome
    • Metaphyseal chondrodysplasia Schmid type
    • Multiple epiphyseal dysplasia
    • Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects
    • Multiple self-healing squamous epithelioma
    • Osteogenesis imperfecta all types
    • Osteoporosis early onset
    • Osteoporosis with fractures
    • Osteoporosis-pseudoglioma syndrome
    • Otospondylomegaepiphyseal dysplasia
    • Porencephaly
    • Short stature
    • Shprintzen-Goldberg syndrome
    • Spondylocheirodysplasia
    • Spondyloepimetaphyseal dysplasia with joint laxity
    • Spondyloepiphyseal dysplasia with congenital joint dislocations
    • Stickler syndrome
    • Supravalvular aortic stenosis
    • Thoracic aortic aneurysm with dissection TAAD
    • Wagner syndrome
    • Weill-Marchesani syndrome
    • Weissenbacher-Zweymuller syndrome
  • Developmental Disorders
    • Developmental Disorders
      • Achondroplasia
      • Apert syndrome
      • Blepharophimosis ptosis and epicanthus inversus syndrome BPES
      • Carpenter syndrome
      • Congenital anomalies of kidney and urinary tract
      • Craniosynostosis
      • Crouzon syndrome
      • DiGeorge syndrome
      • Disorders of sex development DSD
      • Fetal akinesia
      • Galloway-Mowat syndrome
      • Hypochondrioplasia
      • Langer mesomelic dysplasia
      • Léri-Weill dyschondrosteosis
      • Microcephaly
      • Microcephaly primary autosomal recessive
      • Muenke syndrome
      • Pfeiffer syndrome
      • Rett syndrome
      • Roberts syndrome
      • Saethre-Chotzen syndrome SCS
      • Short stature idiopathic X-linked
      • Supravalvular aortic stenosis
      • Tay-Sachs disease
      • Thanatophoric dysplasia
      • Van der Woude syndrome
    • Malformations
      • Dysmorphology Disorders
        • Cherubism
        • Stuve-Wiedemann syndrome
      • Genital Anomalies
        • Denys-Drash syndrome DDS
        • Frasier syndrome
      • Growth Disorders
        • Hemihypertrophy / Hemihyperplasia
        • Segmental overgrowth disorder
        • Simpson-Golabi-Behmel syndrome type 1
      • Skeletal Disorders
        • Camurati-Engelmann disease
        • Desbuquois dysplasia 2
        • Primairy hypertrofische osteoarthropathy
    • Methylation Disorders
      • Angelman syndrome AS
      • Beckwith-Wiedemann syndrome BWS
      • Kagami-Ogata syndrome (paternal UPD14)
      • Multi-locus UPD (pre-screening)
      • Prader-Willi syndrome PWS
      • Silver-Russell syndrome SRS
      • Temple syndrome (maternal UPD14)
      • UPD14 syndrome
      • UPD20 syndrome
  • Endocrine Disorders
    • Abnormal (plasma) transport protein
    • Albright hereditary osteodystrophy AHO
    • Aldosteronism glucocorticoid remediable familial hyperaldosteronism type I GRA
    • Central hypothyroidism
    • Chondrodysplasia
    • Decreased sensitivity to thyroid hormone
    • Failure of eruption, primary
    • Hyperaldosteronism familial type 3
    • Hyperinsulinism
    • Hyperthyroidism
    • Hypothyroidism
    • Lipodystrophy
    • McCune-Albright syndrome
    • Neonatal diabetes mellitus
    • Obesity
    • Pendred syndrome with organification defect
    • Pseudohypoparathyroidism 1a AHO
    • Pseudohypoparathyroidism 1b
    • Pseudopseudohypoparathyroidism
    • Thyroid hormone resistance
    • Thyroidal hypothyroidism
  • Eye Disorders
    • Achromatopsia
    • Albinism, recessive
    • Albinism, X-linked
    • Aniridia
    • Anoftalmia
    • Axenfeld-Rieger syndrome
    • Best macular dystrophy
    • Cataract
    • Central areolar chorioid dystrophy
    • Cone-Rod dystrophy and macula degeneration
    • Ectopia lentis
    • Glaucoma
    • Hyperferritinemia-cataract syndrome
    • Leber congenital amaurosis
    • Leber hereditary optic neuropathy LHON
    • Microftalmia
    • Night blindness congenital stationery
    • Nystagmus, congenital
    • Ocular albimism
    • Optic atrophy
    • Pseudoxanthoma Elasticum PXE
    • PXE-like disorder
    • Retinal genes
    • Retinitis pigmentosa
    • Retinitis pigmentosa, X-linked
    • Retinoschisis Retinoschisis X-linked
    • Stargardt disease
    • TRP syndrome
    • Vision impairment
  • Hematologic Disorders
    • Blackfan-Diamond anemia
    • Factor 7 deficiency
    • Fanconi anemia
    • Hemophilia A
    • Methemoglobinemia Cytochrome b5 reductase deficiency
    • Neutropenia
    • Shwachman-Diamond Syndrome SBDS
  • Immunologic Disorders
    • Angioedema hereditary
    • Hemophagocytic syndrome HLH
    • Hyper IgE recurrent infection syndrome
    • Immunodysregulation, polyendocrinopathy and enteropathy, x-linked IPEX
    • Primary immunodeficiency PID
    • Properdin deficiency X-linked
  • Liver and Bowel Disorders
    • Dubin-Johnsen syndrome
  • Lymphatic Disorders
    • Hennekam lymphangiectasia lymphedema syndrome / Hennekam syndrome
    • Hypotrichosis lymphedema telangiectasia syndrome
    • Lymphedema hereditary
    • Lymphedema-distichiasis syndrome
  • Metabolic Disorders
    • Lipid Metabolism Disorders
      • Cholestasis
      • Cholestasis benign recurrent intrahepatic BRIC
      • Cholestasis intrahepatic of pregnancy ICP
      • Cholestasis progressive familial intrahepatic PFIC
      • Dyslipidemia
      • Gallbladder disease 1 LPAC syndrome
      • Hunter syndrome
      • Hypercholanemia familial FHCA
      • Hypercholesterolemia, familial
    • Lysosomal Storage Disorders
      • Danon disease
      • Gaucher disease
    • Niemann Pick disease
  • Muscle Disorders
    • Emery-Dreifuss muscular dystrophy
    • Muscle Disorders
  • Nephropathies
    • Denys-Drash syndrome DDS
    • Frasier syndrome
    • Wilms tumor
  • Neurological Disorders
    • Alzheimer disease
    • Amyotrophic lateral sclerosis ALS
    • Ceroid lipofuscinosis, neuronal, 13 (Kufs type)
    • Hereditary benign chorea
    • Movement disorders
    • Treatable metabolic neurodegenerative disorders
  • Pulmonary Disease
    • Ciliary dyskinesia
    • Cystic fibrosis
    • Interstitial lung disease
    • Surfactant protein B deficiency
  • Reproductive Genetics and Infertility
    • Infertility
      • Azoospermia
      • Congenital bilateral absence of vas deferens CBAVD
      • Cystic fibrosis
      • Oligospermia
      • Oligozoospermia
    • Reproductive Genetics
      • Azoospermia
      • Cystic fibrosis
      • Oligospermia
      • Oligozoospermia
      • Premature ovarian failure 1 POF
      • XY Gonadal dysgenesis
  • Skin Disorders
    • Basal cell nevus syndrome / Gorlin syndrome BCNS
    • Birt-Hogg-Dubé syndrome BHD
    • Goltz-Gorlin syndrome / Focal dermal hypoplasia FDH
  • Urological Disorders
    • Congenital anomalies of kidney and urinary tract
    • Oligospermia
    • Oligozoospermia

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