GLI3 Gene Sequencing & Del/Dup

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis
  • Carrier testing
  • Capillary Sequencing
  • Exon Array CGH


4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


  • 225 Benign neoplasm of brain and other parts of nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1)
  • 376.41 Hypertelorism of orbit
  • 759.7 Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 748.3 Other anomalies of larynx, trachea, and bronchus, Absence or agenesis of: bronchus larynx trachea, Anomaly (of): cricoid cartilage, epiglottis thyroid cartilage, tracheal cartilage; Atresia (of): epiglottis, glottis, larynx trachea Cleft thyroid, cartilage, congenital Congenital: dilation, trachea stenosis: larynx trachea tracheocele Diverticulum: bronchus trachea Fissure of epiglottis Laryngocele Posterior cleft of cricoid cartilage (congenital) Rudimentary tracheal bronchus Stridor, laryngeal, congenital
  • 755 Other congenital anomalies of limbs Excludes: those deformities classifiable to 754.0-754.8
  • 756 Other congenital musculoskeletal anomalies Excludes: congenital myotonic chondrodystrophy (359.23) those deformities classifiable to 754.0-754.8
  • 755.1 Syndactyly Symphalangy Webbing of digits
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  1. Furniss et al., (2009) J Med Genet 46:730-735.
  2. Elson et al., (2002) J Med Genet 39:804-806
  3. Debeer et al., (2003) Am J Med Genet Part A 120A:49-58
  4. Biesecker et al., (2008) Orphanet J Rare Dis 3:10
  5. Biesecker (2006) J Med Genet 43:465-469
  6. Balk and Biesecker, (2008) Am J Med Genet Part A 146A:548-557