U.S. flag

An official website of the United States government

Results: 1 to 20 of 22

Make selection to find tests for any of the checked conditions.[x]
ConditionsSynonyms
Short QT syndrome type 1
Short QT syndrome type 2
Short QT syndrome type 3
Hepatitis B virus, susceptibility to
  • HBV, SUSCEPTIBILITY TO
Glutaric aciduria, type 1
  • GA I
  • Glutaric acidemia type 1
  • Glutaric acidemia type I
  • Glutaricacidemia Type 1
  • Glutaricaciduria, type I
  • Glutaryl-CoA dehydrogenase deficiency
Wiskott-Aldrich syndrome
  • Aldrich syndrome
  • Eczema thrombocytopenia immunodeficiency syndrome
  • IMD 2
  • Immunodeficiency 2
  • WISKOTT-ALDRICH SYNDROME 1
  • Wiskott-aldrich syndrome, somatic
Holocarboxylase synthetase deficiency
  • MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
Alkaptonuria
  • Alcaptonuria
  • Alkaptonuric ochronosis
  • Homogentisic acid oxidase deficiency
  • Homogentisic acidura
  • Ochronosis, hereditary
Hypophosphatasia
  • Phosphoethanol-aminuria
Familial hyperinsulinism
  • Congenital hyperinsulinism
Prolidase deficiency
Sucrase-isomaltase deficiency
  • Congenital sucrose isomaltose malabsorption
  • Congenital sucrose-isomaltase malabsorption
  • Deficiency of isomaltase
  • Disaccharide intolerance, 1
  • SI deficiency
  • Sucrose intolerance congenital
  • Sucrose isomaltose enzyme deficiency
  • congenital sucrase-isomaltase deficiency
Deficiency of butyrylcholinesterase
  • Acholinesterasemia
  • Acylcholine acylhydrolase deficiency
  • BCHE deficiency
  • BCHE, silent 1
  • Butyrylcholinesterase deficiency
  • CHE1 deficiency
  • Deficiency of butyrylcholine esterase
  • Pseudocholinesterase E1 deficiency
Sick sinus syndrome
Exudative retinopathy
  • Coats disease
  • Retinal telangiectasis
Jejunal atresia
  • Apple peel small bowel syndrome
  • Apple peel syndrome
  • Apple-peel intestinal atresia
  • Familial apple peel jejunal atresia
Enterobiasis
  • Enterobius vermicularis infection
  • Human enterobiasis
  • Oxyuriasis
  • Pinworm
  • Seatworm
Chondromalacia of patella
  • Chondromalacia Patellae
Acetylcholinesterase deficiency
Congenital epulis
  • Congenital granular cell tumor

Results: 1 to 20 of 22

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.