Testing Criteria

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Testing criteria Disorders Genes Date
Macular Dystrophy Disorders
  • Bestrophinopathy, Autosomal Recessive
    • Bestrophinopathy
  • Macular Dystrophy, Vitelliform, 2
    • Best Disease
    • Best Macular Dystrophy
    • Macular Degeneration, Polymorphic VItelline
    • Macular Dystrophy, Vitelliform
    • Vitelliform Macular Dystrophy
    • Vitelliform Macular Dystrophy, Early-Onset
    • Vitelliform Macular Dystrophy, Juvenile-Onset
  • Macular Dystrophy, Vitelliform, 3
    • Foveomacular Dystrophy, Adult-Onset
    • Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization
    • Macular Dystrophy, Vitelliform, Adult-Onset
    • Vitelliform Macular Dystrophy, Adult-Onset
  • Vitreoretinochoroidopathy
    • Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract
    • Vitreoretinochoroidopathy, Autosomal Dominant
    • Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos
  • bestrophin 1
    • best disease
    • vmd2 gene
2010
Male Infertility Due To Y Chromosome Deletions
  • Male Infertility Due to Y Chromosome Deletions
    • Male Infertility
    • Male Infertility Due To Y Chromosome Deletions
    • Y Chr Microdeletions
    • Y Chr Microdeletions (male Infertility)
    • Y Chromo Microdeletions
    • Y Chromosome Deletions
  • Spermatogenic Failure, Y-Linked, 1
    • Sertoli Cell-Only Syndrome, Y-Linked
    • Sertoli Cell-Only Syndrome, Y-Linked
  • Spermatogenic Failure, Y-Linked, 2
    • Azoospermia, Nonobstructive, Y-Linked
    • Oligospermia, Nonobstructive, Y-Linked
    • Oligozoospermia, Nonobstructive, Y-Linked
    • Spermatogenic Arrest, Y-Linked
    • Spermatogenic Failure, Nonobstructive, Y-Linked
  • DEAD-box helicase 3, Y-linked
    • DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked
    • DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome
  • deleted in azoospermia 1
    • deleted in azoospermia
  • deleted in azoospermia 2
  • deleted in azoospermia 3
  • laboratory specific test
  • ubiquitin specific peptidase 9, Y-linked
    • ubiquitin specific peptidase 9
    • Y-linked (fat facets-like, Drosophila)
2012
Malignant Hyperthermia Susceptibility 1 and 5
  • Malignant Hyperthermia, Susceptibility To, 1
    • Hyperpyrexia, Malignant
    • Hyperthermia Of Anesthesia
    • King Syndrome, Included
    • King-Denborough Syndrome, Included
    • Mhs
  • Malignant Hyperthermia, Susceptibility To, 5
  • calcium voltage-gated channel subunit alpha 1S
    • calcium channel, l type, alpha-1 polypeptide, isoform 3, skeletal
    • calcium channel, skeletal muscle dihydropyridine-sensitive, alpha-1 subunit
    • calcium channel, voltage-dependent, l type, alpha 1S subunit
    • calcium channel, voltage-dependent, l type, alpha-1s subunit
    • muscle
  • ryanodine receptor 1
    • ryanodine receptor 1 (skeletal)
    • ryanodine receptor, skeletal muscle
    • sarcoplasmic reticulum calcium release channel
2013
Malignant Melanoma
  • Melanoma, Cutaneous Malignant, Susceptibility To, 2
  • Melanoma, Cutaneous Malignant, Susceptibility To, 3
  • cyclin-dependent kinase 4
    • cell division kinase 4
  • cyclin-dependent kinase inhibitor 2A
    • CDK4 inhibitor
    • cyclin-dependent kinase inhibitor 2A
    • cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)
    • multiple tumor suppressor 1
2009
Mandibulofacial Dysostosis, Guion-Almeida Type
  • Mandibulofacial Dysostosis, Guion-Almeida Type
    • Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate
    • Mandibulofacial Dysostosis with Microcephaly
  • elongation factor Tu GTP binding domain containing 2
    • U5 snRNP-specific protein, 116-kD
    • U5-116kD
2013
Marfan Syndrome (FBN1 negative)
  • Marfan Syndrome
    • Marfan Syndrome, Type I
  • actin, alpha 2, smooth muscle, aorta
    • actin, alpha, smooth muscle, aortic
    • actin, vascular smooth muscle
  • myosin heavy chain 11
    • myosin, heavy chain 11, smooth muscle
    • myosin, smooth muscle, heavy chain 11
    • smooth muscle myosin heavy chain
  • SMAD family member 3
    • MAD, mothers against decapentaplegic homolog 3 (Drosophila)
    • mothers against decapentaplegic, drosophila, homolog of, 3
    • SMA- and MAD-related protein 3
    • SMAD, mothers against DPP homolog 3 (Drosophila)
  • transforming growth factor, beta receptor 1
    • activin a receptor type II-like kinase, 53kda
  • transforming growth factor, beta receptor 2
    • colorectal cancer, hereditary nonpolyposis type 6
    • transforming growth factor, beta receptor II (70-80kd)
2011
Marfan Syndrome (FBN1)
  • Marfan Syndrome
    • Marfan Syndrome, Type I
  • fibrillin 1
    • fibrillin
    • fibrillin 1 (marfan syndrome)
2012
MCAP and Clove Syndrome
  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
    • Clove Syndrome
    • Cloves Syndrome
    • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities
  • Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
    • Macrocephaly-Capillary Malformation
    • Macrocephaly-Cutis Marmorata Telangiectatica Congenita
    • Megalencephaly-Capillary Malformation Syndrome
    • Megalencephaly-Cutis Marmorata Telangiectatica Congenita
  • phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
    • p110-alpha
    • phosphatidylinositol 3-kinase, catalytic, 110-kD, alpha
    • phosphoinositide-3-kinase, catalytic, alpha polypeptide
    • PI3K-alpha
    • PIK3-alpha
2013
Meckel Syndrome 2008
Meckel Syndromes 9 gene panel
  • Hydrolethalus Syndrome 1
  • Meckel Syndrome, Type 1
    • Dysencephalia Splanchnocystica
    • Gruber Syndrome
    • Meckel Syndrome
    • Meckel-Gruber Syndrome
    • Meckel-Gruber Syndrome, Type 1
  • Meckel Syndrome, Type 10
  • Meckel Syndrome, Type 2
  • Meckel Syndrome, Type 3
    • Meckel-Gruber Syndrome, Type 3
  • Meckel Syndrome, Type 4
    • Meckel-Gruber Syndrome, Type 4
  • Meckel Syndrome, Type 7
    • Goldston Syndrome
    • Renal-Hepatic-Pancreatic Dysplasia With Dandy-Walker Cyst
  • Meckel Syndrome, Type 8
  • Meckel Syndrome, Type 9
  • B9 domain containing 1
    • B9 protein domain 1
  • B9 protein domain 2
  • centrosomal protein 290
    • antigen identified by monoclonal antibody 3H11
    • BBS14 gene
    • centrosomal protein 290kDa
    • nephrocystin 6
  • HYLS1, centriolar and ciliogenesis associated
    • hydrolethalus syndrome 1
  • Meckel syndrome, type 1
  • nephrocystin 3
    • nephronophthisis 3 (adolescent)
  • tectonic family member 2
    • chromosome 12 open reading frame 38
    • tectonic 2
  • transmembrane protein 216
    • cerebello-oculo-renal syndrome 2
    • Meckel syndrome, type 2
  • transmembrane protein 67
2015

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