Testing Criteria

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Testing criteria Disorders Genes Date
Kabuki Syndrome 2 2013
Kabuki Syndrome 1 2011
Kallmann Syndrome (HH1 and HH2)
  • Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
  • Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
  • anosmin 1
    • Adhesion molecule-like, X-linked
    • anosmin-1
    • Kallmann syndrome 1 sequence
    • Kallmann syndrome interval gene 1
    • WAP four-disulfide core domain 19
  • fibroblast growth factor receptor 1
    • fms-like gene
    • fms-like tyrosine kinase 2
    • fms-related tyrosine kinase 2
2016
KBG Syndrome
  • KBG Syndrome
    • Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, and Skeletal Anomalies
  • ankyrin repeat domain 11
    • ankyrin repeat domain-containing protein 11
    • ankyrin repeat-containing cofactor 1
    • nasopharyngeal carcinoma susceptibility protein
2014
Kidney Disease, Tubulo Interstitial, 2 Gene Panel
  • Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria
  • Hyperuricemic Nephropathy, Familial Juvenile, 1
    • Familial Juvenile Hyperuricemic Nephropathy
    • Gouty Nephropathy, Familial Juvenile
    • Hyperuricemic Nephropathy, Familial Juvenile
    • Nephropathy, Familial, With Gout
  • Hyperuricemic Nephropathy, Familial Juvenile, 2
    • Early-Onset Hyperuricemia, Anemia, And Progressive Kidney Failure
  • Medullary Cystic Kidney Disease 2
    • Medullary Cystic Kidney Disease 2, Autosomal Dominant
  • Renal Tubular Dysgenesis
  • renin
  • uromodulin
    • tamm-horsfall glycoprotein
    • uromodulin (uromucoid, tamm-horsfall glycoprotein)
2016
Krabbe Disease
  • Krabbe Disease
    • Galactocerebrosidase Deficiency
    • Galactosylceramide Beta-Galactosidase Deficiency
    • Galc Deficiency
    • Globoid Cell Leukodystrophy
    • Globoid Cell Leukoencephalopathy
  • galactosylceramidase
    • galactosylceramidase (krabbe disease)
2014

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