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Results: 21 to 40 of 189

Make selection to find tests for any of the checked conditions.[x]
ConditionsSynonyms
Severe early-childhood-onset retinal dystrophy
  • ABCA4-Related Stargardt Disease 1
  • CNGB3-Related Stargardt Disease 1
  • Juvenile onset macular degeneration
  • MACULAR DYSTROPHY WITH FLECKS, TYPE 1
  • STGD
  • Stargardt disease 1
  • Stargardt macular dystrophy
Developmental and epileptic encephalopathy, 4
  • Early infantile epileptic encephalopathy 4
  • STXBP1-Related Epileptic Encephalopathy
Strabismus, susceptibility to
Bernard Soulier syndrome
  • BLEEDING DISORDER, PLATELET-TYPE, 1
  • GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF
  • Giant platelet disease
  • Giant platelet syndrome
  • Hemorrhagiparous thrombocytic dystrophy
  • PLATELET GLYCOPROTEIN Ib DEFICIENCY
  • Platelet glycoprotein 1b, deficiency of
  • Von Willebrand factor receptor deficiency
Nephronophthisis 4
  • NEPHRONOPHTHISIS 4, JUVENILE
Loeys-Dietz syndrome 4
  • ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
  • TGFB2-Related Loeys-Dietz Syndrome
Medulloblastoma
  • MEDULLOBLASTOMA PREDISPOSITION SYNDROME
  • Medulloblastoma, SUFU-Related
  • Medulloblastoma, somatic
Megalencephalic leukoencephalopathy with subcortical cysts 1
  • Leukoencephalopathy with swelling and cysts
  • MLC1-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts
  • Megalencephaly-cystic leukodystrophy
  • Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Preeclampsia/eclampsia 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • TREM2-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
  • TYROBP-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
Susceptibility to HIV infection
  • HIV-1, SUSCEPTIBILITY TO
  • HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
  • Human immunodeficiency virus type 1, susceptibility to
Age related macular degeneration 4
Hypotrichosis 4
  • HYPOTRICHOSIS, MARIE UNNA TYPE, 1
Autoimmune lymphoproliferative syndrome type 4
  • AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
  • RAS-associated autoimmune leukoproliferative disorder
Fetal hemoglobin quantitative trait locus 1
Tyrosinase-negative oculocutaneous albinism
  • Albinism, oculocutaneous, type IA
  • Oculocutaneous albinism type 1A
Achromatopsia 4
Autism spectrum disorder
  • Autism spectrum disorders
Autosomal recessive ataxia due to ubiquinone deficiency
  • CABC1-Related Coenzyme Q10 Deficiency
  • Coenzyme Q10 deficiency, primary, 4
  • Spinocerebellar ataxia, autosomal recessive 9
Malaria, susceptibility to

Results: 21 to 40 of 189

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