Results: 1 to 12 of 12

Make selection to find tests for any of the checked conditions.[x]
ConditionsSynonyms
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
  • GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
  • GALT deficiency
  • Galactose-1-phosphate uridyltransferase deficiency
  • Galactosemia, classic
X-linked severe combined immunodeficiency
  • IMMUNODEFICIENCY 4
  • Severe combined immunodeficiency T- B+ due to gamma chain deficiency
  • Severe combined immunodeficiency T- B+, X-linked
  • Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative
  • X-Linked Combined Immunodeficiency Diseases
  • X-linked SCID
X-linked agammaglobulinemia
  • AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1
  • Agammaglobulinemia, BTK
  • Agammaglobulinemia, Bruton tyrosine kinase
  • BTK-deficiency
  • Bruton type agammaglobulinemia
  • Bruton's agammaglobulinemia
  • IMMUNODEFICIENCY 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
  • Autoimmunity-immunodeficiency syndrome X-linked
  • DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA
  • Diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
  • Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy
  • IDDM secretory diarrhea syndrome
  • IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
  • Polyendocrinopathy, immune dysfunction and diarrhea X-linked
  • X-linked autoimmunity-allergic dysregulation syndrome
Complement component 2 deficiency
  • C2 deficiency
  • Complement Component C2 Deficiency
Netherton syndrome
  • COMEL-NETHERTON SYNDROME
  • ERYTHRODERMA, ICHTHYOSIFORM, WITH HYPOTRICHOSIS AND HYPER-IgE
  • Ichthyosis linearis circumflexa
  • Netherton disease
Galactosemia
Stevens-Johnson syndrome
  • Erythema multiforme major
  • STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO
Toxic epidermal necrolysis
  • Mucocutaneous exfoliative disease
  • Staphylococcal scalded skin syndrome
  • TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO
Melioidosis, susceptibility to
Congenital short bowel syndrome
Severe congenital neutropenia 4, autosomal recessive
  • G6PC3 Deficiency

Results: 1 to 12 of 12

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