Forms and Documents
- Confirmation of clinical diagnosis
- Identification of the specific gene defect(s) to allow: (a) Identification of non-expressing mutation carriers in families with an affected member (b) Prenatal diagnosis for the specific mutation in the family
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 742.2 Reduction deformities of brain Absence of part of brain, Agenesis of part of brain, Agyria Aplasia of part of brain, Arhinencephaly, Holoprosencephaly, Hypoplasia of part of brain Microgyria
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Wallis et al., (2000) Human Mutat 16:99-108
- Dubourg et al., (2004) Hum Mutat 24: 43-51
- Bendavid et al., (2005) Hum Genet 119: 1-8
- Bendavid et al., (2006) J Med Genet 43: 496-500
- Dubourg et al., (2007) Orphan J Rare Dis 2:8
- El-Jaik et al., (2007) Mol Genet Metab 90:97-111
- Bendavid et al., (2009) Hum Mutat 30: 1175-1182
- Lacbawan et al., (2009) J Med Genet 46:389-98
- Roessler et al., (2009) Hum Mutat 10:921- 993
- Solomon et al., (2009) J Med Genet 47:513-24
- Muenke, M. and Gropman, A. Holoprosencephaly Overview, www.genereviews.org. (2010)
- Muenke et al., (2010) Am J Med Genet 154C: 52-61
- Paulussen et al., (2010) Eur J Hum Genet 18: 999-1005.
- Solomon et al., (2010) Am J Med Genet 154C: 133-141