Testing Criteria

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Testing criteria Disorders Genes Date
Acrogigantism (X-Linked)
  • Chromosome Xq26.3 Duplication Syndrome
    • Acrogigantism X-Linked
    • Chromosome Xq26 Microduplication Syndrome
    • X-Linked Acrogigantism
  • G protein-coupled receptor 101
    • 0
2016
Acromicric Dysplasia
  • Acromicric Dysplasia
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
2012
Acromicric Dysplasia and Geleophysic Dysplasia 2012
Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency Of
  • Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency Of
    • ACADM Deficiency
    • Carnitine Deficiency Secondary To Medium-Chain Acyl-CoA Dehydrogenase Deficiency
    • MCAD Deficiency
    • MCADH Deficiency
  • acyl-CoA dehydrogenase, C-4 to C-12 straight chain
    • acyl-coa dehydrogenase, medium-chain
    • acyl-coenzyme a dehydrogenase, c-4 to c-12 straight chain
    • medium-chain acyl-coa dehydrogenase
2014
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency 2011
Adrenal Hyperplasia, Congenital, due to 21 Hydroxylase Deficiency; CAH (NIPD - Diagnostic Linked Haplotype Testing)
  • Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
    • 21-@hydroxylase B, Included
    • 21-@hydroxylase Deficiency
    • Adrenal Hyperplasia III
    • Ca21h, Included
    • Congenital Adrenal Hyperplasia 1
    • Cyp21 Deficiency
    • Cyp21a1p, Included
    • Cyp21p, Included
    • Cytochrome P450, Subfamily XXI, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 1 Pseudogene, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 2, Included
    • Hyperandrogenism, Nonclassic Type, Due To 21-Hydroxylase Deficiency, Included
    • Steroid Cytochrome P450 21-Hydroxylase, Included
  • cytochrome P450, family 21, subfamily A, member 2
    • 21-hydroxylase B
    • 21-hydroxylase deficiency
    • CYP21 deficiency
    • cytochrome P450, family 21, subfamily A, polypeptide 2
    • cytochrome P450, subfamily XXI
    • cytochrome P450, subfamily XXIA, polypeptide 2
    • steroid cytochrome P450 21-hydroxylase
2015
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
  • Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
    • 21-@hydroxylase B, Included
    • 21-@hydroxylase Deficiency
    • Adrenal Hyperplasia III
    • Ca21h, Included
    • Congenital Adrenal Hyperplasia 1
    • Cyp21 Deficiency
    • Cyp21a1p, Included
    • Cyp21p, Included
    • Cytochrome P450, Subfamily XXI, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 1 Pseudogene, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 2, Included
    • Hyperandrogenism, Nonclassic Type, Due To 21-Hydroxylase Deficiency, Included
    • Steroid Cytochrome P450 21-Hydroxylase, Included
  • cytochrome P450, family 21, subfamily A, member 2
    • 21-hydroxylase B
    • 21-hydroxylase deficiency
    • CYP21 deficiency
    • cytochrome P450, family 21, subfamily A, polypeptide 2
    • cytochrome P450, subfamily XXI
    • cytochrome P450, subfamily XXIA, polypeptide 2
    • steroid cytochrome P450 21-hydroxylase
2014
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency (NIPD)
  • Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
    • 21-@hydroxylase B, Included
    • 21-@hydroxylase Deficiency
    • Adrenal Hyperplasia III
    • Ca21h, Included
    • Congenital Adrenal Hyperplasia 1
    • Cyp21 Deficiency
    • Cyp21a1p, Included
    • Cyp21p, Included
    • Cytochrome P450, Subfamily XXI, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 1 Pseudogene, Included
    • Cytochrome P450, Subfamily XXIa, Polypeptide 2, Included
    • Hyperandrogenism, Nonclassic Type, Due To 21-Hydroxylase Deficiency, Included
    • Steroid Cytochrome P450 21-Hydroxylase, Included
  • cytochrome P450, family 21, subfamily A, member 2
    • 21-hydroxylase B
    • 21-hydroxylase deficiency
    • CYP21 deficiency
    • cytochrome P450, family 21, subfamily A, polypeptide 2
    • cytochrome P450, subfamily XXI
    • cytochrome P450, subfamily XXIA, polypeptide 2
    • steroid cytochrome P450 21-hydroxylase
2011
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency 2008
Adrenoleukodystrophy 1 Gene Panel
  • Adrenoleukodystrophy
    • Addison Disease And Cerebral Sclerosis
    • Adrenomyeloneuropathy
    • Bronze Schilder Disease
    • Melanodermic Leukodystrophy
    • Siemerling-Creutzfeldt Disease
  • ATP-binding cassette, sub-family D, member 1
    • adrenoleukodystrophy protein
    • ATP-binding cassette, sub-family D (ALD), member 1
2016

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