Testing Criteria

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Testing criteria Disorders Genes Date
Galactokinase Deficiency
  • Galactokinase Deficiency
    • Galactosemia II
    • GALK Deficiency
  • galactokinase 1
2015
Galactosemia
  • Galactosemia
    • Galactosaemia
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactosemia, Classic
    • Galt Deficiency
  • galactose-1-phosphate uridylyltransferase
2014
Galactosialidosis
  • Galactosialidosis
    • Cathepsin A Deficiency
    • Goldberg Syndrome
    • Lysosomal Protective Protein Deficiency
    • Neuraminidase Deficiency With Beta-Galactosidase Deficiency
    • Neuraminidase/Beta-Galactosidase Expression
    • PPCA Deficiency
    • Protective Protein/Cathepsin A Deficiency
  • cathepsin A
    • protective protein for beta-galactosidase (galactosialidosis)
2014
Gastrointestinal Atresia Disorders 8 Gene Panel
  • Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
    • Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies
    • Pulmonary Hypertension, Familial Persistent, Of The Newborn
  • CHARGE Syndrome
    • Charge Association - Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Abnormalities
  • Feingold Syndrome 1
    • Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum
    • Microcephaly And Digital Abnormalities With Normal Intelligence
    • Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome
    • Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome
    • MMT Syndrome
    • Oculodigitoesophagoduodenal Syndrome
    • ODED Syndrome
  • Mandibulofacial Dysostosis, Guion-Almeida Type
    • Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate
    • Mandibulofacial Dysostosis with Microcephaly
  • Martinez-Frias Syndrome
    • Pancreatic Hypoplasia, Intestinal Atresia, And Gallbladder Aplasia Or Hypoplasia, With Or Without Tracheoesophageal Fistula
  • Microphthalmia, Syndromic 3
    • Aeg Syndrome
    • Anophthalmia, Clinical, With Associated Anomalies
    • Anophthalmia-Esophageal-Genital Syndrome
    • Microphthalmia And Esophageal Atresia Syndrome
  • Opitz Gbbb Syndrome, Type I
    • Opitz Gbbb Syndrome, X-Linked|Opitz Syndrome|Opitz Syndrome, X-Linked|Opitz-G Syndrome, Type I|Opitz Bbbg Syndrome, Type I|Hypertelorism With Esophageal Abnormality And Hypospadias|Hypertelorism-Hypospadias Syndrome|Telecanthus-Hypospadias Syndrome
  • chromodomain helicase DNA-binding protein 7
  • elongation factor Tu GTP binding domain containing 2
    • U5 snRNP-specific protein, 116-kD
    • U5-116kD
  • forkhead box F
    • forkhead, drosophila, homolog-like 5
    • forkhead-related activator 1
  • midline 1
    • FXY
    • OS
    • RNF59
    • TRIM18
  • MYCN proto-oncogene, bHLH transcription factor
    • v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
    • v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
    • v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
  • regulatory factor X6
    • regulatory factor X domain containing 1
    • regulatory factor X, 6
  • SRY-box 2
    • SRY (sex determining region Y)-box 2
    • SRY related HMG-box gene 2
    • SRY-box 2
  • tetratricopeptide repeat domain 7A
    • KIAA1140
2016
GATA2 Deficiency 2014
GATA2 Deficiency
  • Immunodeficiency 21
    • Combined Immunodeficiency with Susceptibility to Mycobacterial, Viral, and Fungal Infections
    • Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficiency
    • Monocytopenia and Mycobacterial Infection Syndrome
    • Monocytopenia with Susceptibility to Mycobacterial, Fungal, and Papillomavirus Infections and Myelodysplasia
  • ... see testing criteria for full list of genes for panel tests
  • GATA binding protein 2
    • GATA-binding protein 2
2014
GATA2 Deficiency
  • Lymphedema, Primary, With Myelodysplasia
    • Emberger Syndrome
  • GATA binding protein 2
    • GATA-binding protein 2
2014
GATA2 Deficiency
  • Leukemia, Acute Myeloid
    • Leukemia, Acute Myelogenous
  • GATA binding protein 2
    • GATA-binding protein 2
2014
GATA2 Deficiency
  • Myelodysplastic Syndrome
  • GATA binding protein 2
    • GATA-binding protein 2
2014
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis
  • Gaze Palsy, Familial Horizontal, With Progressive Scoliosis
    • Ophthalmoplegia, Progressive External, And Scoliosis, Included
  • roundabout guidance receptor 3
    • roundabout, Drosophilia, homolog of 3
2008

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