Testing Criteria

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Testing criteria Disorders Genes Date
Aicardi-Goutieres Syndrome 2016
Aicardi-Goutieres Syndromes 7 Gene Panel
  • Aicardi-Goutieres Syndrome 1
    • Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
  • Aicardi-Goutieres Syndrome 2
  • Aicardi-Goutieres Syndrome 3
  • Aicardi-Goutieres Syndrome 4
  • Aicardi-Goutieres Syndrome 5
  • Aicardi-Goutieres Syndrome 6
  • Aicardi-Goutieres Syndrome 7
  • adenosine deaminase, RNA-specific
    • interferon-induced protein 4
  • interferon induced with helicase C domain 1
    • 0
  • ribonuclease H2, subunit A
    • aicardi gourieres syndrome 4
    • ribonuclease H2, large subunit
    • ribonuclease HI, large subunit
    • RNAse HI, large subunit
  • ribonuclease H2, subunit B
    • aicardi gourieres syndrome 2
    • deleted in lymphocytic leukemia 8
  • ribonuclease H2, subunit C
    • aicardi gourieres syndrome 3
  • SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
    • Aicardi-Goutieres syndrome 5
  • three prime repair exonuclease 1
    • aicardi gourieres syndrome 1
2016
Alagille Syndrome 2
  • Alagille Syndrome 2
  • notch 2
    • notch homolog 2 (drosophila)
2009
Aldosterone Synthase Deficiency 2010
Alpha-1-Antitrypsin Deficiency
  • Alpha-1-Antitrypsin Deficiency
  • serpin family A, member 1
    • alpha-1-antitrypsin
    • alpha-1-antitrypsin deficiency, autosomal recessive, included
    • anti-elastase
    • antitrypsin
    • protease inhibitor 1
    • serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
    • serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
    • serpinA1
2014
Alport Syndrome, X-Linked
  • Alport Syndrome, X-Linked
    • Alport Syndrome-Like Hereditary Nephritis, Included
    • Nephropathy And Deafness
  • collagen, type IV, alpha 5 chain
    • alport syndrome
    • collagen of basement membrane, alpha-5 chain
    • collagen, type IV, alpha 5
    • collagen, type IV, alpha-5
2014
Alport Syndromes 3 Gene Panel
  • Alport Syndrome, Autosomal Dominant
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, X-Linked
    • Alport Syndrome-Like Hereditary Nephritis, Included
    • Nephropathy And Deafness
  • Hematuria, Benign Familial
    • Thin Membrane Nephropathy
    • Thin-Basement-Membrane Nephropathy
  • collagen, type IV, alpha 3 chain
    • collagen of basement membrane, alpha-3 chain
    • collagen, type IV, alpha 3 (goodpasture antigen)
    • tumstatin
  • collagen, type IV, alpha 4 chain
    • collagen of basement membrane, alpha-4 chain
    • collagen, type IV, alpha 4
  • collagen, type IV, alpha 5 chain
    • alport syndrome
    • collagen of basement membrane, alpha-5 chain
    • collagen, type IV, alpha 5
    • collagen, type IV, alpha-5
2015
Alport Syndromes 5 Gene Panel
  • Alport Syndrome, Autosomal Dominant
  • Alport Syndrome, Autosomal Recessive
  • Alport Syndrome, X-Linked
    • Alport Syndrome-Like Hereditary Nephritis, Included
    • Nephropathy And Deafness
  • Hematuria, Benign Familial
    • Thin Membrane Nephropathy
    • Thin-Basement-Membrane Nephropathy
  • Nephrotic Syndrome, Type 2
    • Nephrotic Syndrome, Idiopathic
    • Nephrotic Syndrome, Idiopathic, Included
    • Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
  • collagen, type IV, alpha 3 chain
    • collagen of basement membrane, alpha-3 chain
    • collagen, type IV, alpha 3 (goodpasture antigen)
    • tumstatin
  • collagen, type IV, alpha 4 chain
    • collagen of basement membrane, alpha-4 chain
    • collagen, type IV, alpha 4
  • collagen, type IV, alpha 5 chain
    • alport syndrome
    • collagen of basement membrane, alpha-5 chain
    • collagen, type IV, alpha 5
    • collagen, type IV, alpha-5
  • collagen, type IV, alpha 6 chain
    • collagen, type IV, alpha 6
  • NPHS2, podocin
    • nephrosis 2, idiopathic, steroid-resistant (podocin)
    • nephrosis 2, idiopathic, steroid-resistant podocin
2015
Alstrom Syndrome
  • Alstrom Syndrome
    • Alss
  • ALMS1, centrosome and basal body associated protein
    • ALMS1 gene
    • Alstrom syndrome 1
2015
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
  • 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
  • forkhead box F
    • forkhead, drosophila, homolog-like 5
    • forkhead-related activator 1
2012

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