Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

GLI3 Select Exons Sequencing



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Carrier testing
Lab Method:
Capillary Sequencing


Test Code:
Turnaround Time:
5-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots


CPT Codes:
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
ICD Codes:
  • 376.41: Hypertelorism of orbit
  • 755: Polydactyly
  • 225: Brain
  • 759.7: Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
  • 756: Anomalies of skull and face, bones; Absence of skull, bones; Acrocephaly; Congenital deformity of forehead; Craniosynostosis; Crouzon's disease; Hypertelorism; Imperfect fusion of skull; Oxycephaly; Platybasia; Premature closure of cranial sutures; Tower skull Trigonocephaly Excludes: acrocephalosyndactyly [Apert's syndrome] (755.55) dentofacial anomalies (524.0-524.9) skull defects associated with brain anomalies, such as: anencephalus (740.0) encephalocele (742.0) hydrocephalus (742.3) microcephalus (742.1)
  • 755.1: Syndactyly Symphalangy Webbing of digits
  • 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
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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

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