Testing Criteria

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Testing criteria Disorders Genes Date
Fabry Disease
  • Fabry Disease
    • Alpha-Galactosidase A Deficiency
    • Alpha-Galactosidase A, Included
    • Anderson-Fabry Disease
    • Angiokeratoma, Diffuse
    • Ceramide Trihexosidase Deficiency
    • Fabry Disease, Cardiac Variant
    • Galactosidase, Alpha, Included
    • GLA Deficiency
    • Hereditary Dystopic Lipidosis
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
2014
Fabry Disease
  • Fabry Disease
    • Alpha-Galactosidase A Deficiency
    • Alpha-Galactosidase A, Included
    • Anderson-Fabry Disease
    • Angiokeratoma, Diffuse
    • Ceramide Trihexosidase Deficiency
    • Fabry Disease, Cardiac Variant
    • Galactosidase, Alpha, Included
    • GLA Deficiency
    • Hereditary Dystopic Lipidosis
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
2014
Facioscapulohumeral Muscular Dystrophy 2
  • Facioscapulohumeral Muscular Dystrophy 2
    • Facioscapulohumeral Muscular Dystrophy 2, Digenic
    • FSHD2, Digenic
    • Muscular Dystrophy, Facioscapulohumeral, Type 1B
    • Muscular Dystrophy, Facioscapulohumeral, Type 2
  • structural maintenance of chromosomes flexible hinge domain containing 1
    • SMC hinge domain-containing protein 1
    • structural maintenance of chromosomes flexible hinge domain-containing protein 1
2016
Familial Adenomatous Polyposis, 2
  • Familial Adenomatous Polyposis 2
    • Adenomas, Multiple Colorectal, Autosomal Recessive
    • Colorectal Adenomatous Polyposis, Autosomal Recessive
  • mutY DNA glycosylase
    • mutY homolog
    • mutY homolog (e. coli)
    • mutY homolog (e. coli)
    • mutY(e. coli) homolog
    • mutY, e. coli, homolog of
2008
Familial Breast/Ovarian Cancer
  • Breast-Ovarian Cancer, Familial, Susceptibility To, 1
  • Breast-Ovarian Cancer, Familial, Susceptibility To, 2
  • BRCA1, DNA repair associated
    • breast cancer 1 gene
    • breast cancer 1, early-onset, included
    • breast cancer, type 1, included
    • breast-ovarian cancer, included
  • BRCA2, DNA repair associated
    • brca1/brca2-containing complex, subunit 2
    • breast cancer 2 gene
    • breast cancer 2, early onset
    • breast cancer 2, early-onset, included
    • breast cancer, type 2, included
    • fanconi anaemia, complementation group d1
    • fanconi anemia, complementation group d1
2014
Familial Cylindromatosis, Trichoepitheliomas and Spiradenoma
  • Brooke-Spiegler Syndrome
    • Spiegler-Brooke Syndrome
  • CYLD lysine 63 deubiquitinase
    • CYLD gene
    • cylindromatosis (turban tumor syndrome)
    • ubiquitin specific peptidase like 2
2013
Familial Cylindromatosis, Trichoepitheliomas and Spiradenoma
  • Cylindromatosis, Familial
    • 'Turban Tumor' Syndrome
    • Ancell-Spiegler Cylindromas
    • Cylindromas, Dermal Eccrine
  • CYLD lysine 63 deubiquitinase
    • CYLD gene
    • cylindromatosis (turban tumor syndrome)
    • ubiquitin specific peptidase like 2
2013
Familial Cylindromatosis, Trichoepitheliomas and Spiradenoma
  • Trichoepithelioma, Multiple Familial, 1
    • Brooke-Fordyce Trichoepitheliomas
    • Epithelioma Adenoides Cysticum Of Brooke
    • Epithelioma, Hereditary Multiple Benign Cystic
  • CYLD lysine 63 deubiquitinase
    • CYLD gene
    • cylindromatosis (turban tumor syndrome)
    • ubiquitin specific peptidase like 2
2013
Familial Dilated Cardiomyopathy
  • Cardiomyopathy, Dilated, 1A
    • Cardiomyopathy, Congestive
    • Cardiomyopathy, Dilated, With Conduction Defect 1
    • Cardiomyopathy, Familial Idiopathic
    • Cardiomyopathy, Idiopathic Dilated
  • Cardiomyopathy, Dilated, 1D
    • Left Ventricular Noncompaction 6, Included
  • Cardiomyopathy, Dilated, 1S
    • Left Ventricular Noncompaction 5
  • Left Ventricular Noncompaction 10
    • Cardiomyopathy, Dilated, 1MM
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • myosin binding protein C, cardiac
    • cardiac myosin-binding protein C
    • myosin-binding protein C, cardiac
  • myosin heavy chain 7
    • myopathy, distal 1
    • myosin, cardiac, heavy chain, beta
    • myosin, heavy chain 7, cardiac muscle, beta
    • myosin, heavy polypeptide 7, cardiac muscle, beta
  • troponin T2, cardiac type
    • cardiomyopathy, dilated 1D (autosomal dominant)
    • troponin T type 2 (cardiac)
    • troponin t2, cardiac
2014
Familial Hypercholesterolemia
  • Hypercholesterolemia, Autosomal Dominant, 3
    • Hypercholesterolaemia, Autosomal Dominant, 3
  • Hypercholesterolemia, Autosomal Dominant, Type B
    • Apolipoprotein B-100, Familial Defective
    • Apolipoprotein B-100, Familial Ligand-Defective
    • Hypercholesterolaemia, Autosomal Dominant, Type B
    • Hypercholesterolemia, Familial, Due To Ligand-Defective Apolipoprotein B
  • Hypercholesterolemia, Familial
    • Hyper-Low-Density-Lipoproteinemia
    • Hypercholesterolaemia, Familial
    • Hypercholesterolemia, Autosomal Dominant
    • Hyperlipoproteinemia, Type II
    • Hyperlipoproteinemia, Type IIa
    • Ldl Receptor Disorder
  • apolipoprotein B
    • acanthocytosis with hypobetalipoproteinemia, included
    • AG lipoprotein types, included
    • apolipoprotein B (including AG (x) antigen)
    • apolipoprotein B allotypes, included
    • hypobetalipoproteinemia, familial, 1, included
    • hypobetalipoproteinemia, familial, included
    • hypobetalipoproteinemia, normotriglyceridemic,included
  • low density lipoprotein receptor
    • familial hypercholesterolemia
    • low density lipoprotein receptor
  • proprotein convertase subtilisin/kexin type 9
    • hypercholesterolemia, autosomal dominant 3
2008

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