Testing Criteria

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Testing criteria Disorders Genes Date
Tay-Sachs Disease
  • Tay-Sachs Disease
    • B Variant GM2-Gangliosidosis
    • GM2-Gangliosidosis, Type I
    • HEXA deficiency
    • Hexosaminidase A Deficiency
  • hexosaminidase subunit alpha
    • hexosaminidase a (alpha polypeptide)
2012
Thanatophoric Dysplasia 2010
Thanatophoric Dysplasia
  • Thanatophoric Dysplasia, Type I
    • Severe Achondroplasia With Developmental Delay and Acanthosis Nigricans
    • Thanatophoric Dwarfism
    • Thanatophoric Dysplasia, Type I, Included
  • fibroblast growth factor receptor 3
    • achondroplasia, thanatophoric dwarfism
2010
Thanatophoric Dysplasia
  • Thanatophoric Dysplasia, Type II
    • Cloverleaf Skull With Thanatophoric Dwarfism
    • Thanatophoric Dysplasia With Kleeblattschaedel
    • Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull
  • fibroblast growth factor receptor 3
    • achondroplasia, thanatophoric dwarfism
2010
Thiamine-Responsive Megaloblastic Anemia Syndrome
  • Thiamine-Responsive Megaloblastic Anemia Syndrome
    • Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness
    • Rogers Syndrome
    • Thiamine-Responsive Anemia Syndrome
    • Thiamine-Responsive Myelodysplasia
  • solute carrier family 19 member 2
    • solute carrier family 19 (thiamine transporter) member 2
2008
Thrombocytopenia Absent-Radius Syndrome (1q21.1 200kb deletion)
  • Thrombocytopenia-Absent Radius Syndrome
    • Chromosome 1q21.1 Deletion Syndrome, 200-Kb
    • TAR Syndrome
  • RNA binding motif protein 8A
    • RNA-binding motif protein 8
2010
Thrombocytopenia Absent-Radius Syndrome (RBM8A)
  • Thrombocytopenia-Absent Radius Syndrome
    • Chromosome 1q21.1 Deletion Syndrome, 200-Kb
    • TAR Syndrome
  • RNA binding motif protein 8A
    • RNA-binding motif protein 8
2013
Thyroid Dyshormonogenesis
  • Thyroid Dyshormonogenesis 2A
    • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2A
    • Iodide Peroxidase Deficiency
    • Thyroid Hormonogenesis, Genetic Defect In, 2A
    • Thyroid Peroxidase Deficiency
  • Thyroid Dyshormonogenesis 3
    • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 3
    • Thyroid Hormonogenesis, Genetic Defect In, 3
  • thyroglobulin
  • thyroid peroxidase
    • thyroperoxidase
2013
Thyroid Hormone Resistance, Selective Pituitary
  • Thyroid Hormone Resistance, Selective Pituitary
    • Hyperthyroidism, Familial, Due To Inappropriate Thyrotropin Secretion
  • thyroid hormone receptor, beta
    • avian erythroblastic leukemia VIral (v-erb-a) oncogene homolog 2
    • generalized resistance to thyroid hormone
    • oncogene erba2
    • thyroid hormone receptor beta 1
2008
Townes-Brocks Syndrome
  • Townes-Brocks Syndrome
    • Anus, Imperforate, With Hand, Foot, And Ear Anomalies
    • Deafness, Sensorineural, With Imperforate Anus And Thumb Anomalies
    • REAR Syndrome
    • Renal-Ear-Anal-Radial Syndrome
  • spalt-like transcription factor 1
    • sal (Drosophila)-like 1
    • SAL-like 1
    • sal-like 1 (Drosophila)
2013

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