Holoprosencephaly

Holoprosencephaly (HPE) is the most common malformation of the forebrain and midface. It is characterized by a wide phenotypic spectrum ranging from hypotelorism and single central upper incisor to cyclopia with proboscis. About 80% of individuals with HPE have characteristic facial anomalies. Neurocognitive impairment, seizures, cleft lip/palate, autonomic instability, diabetes insipidus and other endocrine abnormalities constitute frequent complications of HPE. HPE affects 1 in 250 gestations, and 1 in 10,000 live-born infants.

Tests Available

Forms and Documents

Test Details

SHH, SIX3, TGIF, ZIC2
  • 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
  • MLPA
  • Next-Gen Sequencing

Ordering

2371
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x4
Yes
Yes
  • 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
* For price inquiries please email zebras@genedx.com

References

  1. Wallis et al., (2000) Human Mutat 16:99-108
  2. Dubourg et al., (2004) Hum Mutat 24: 43-51
  3. Bendavid et al., (2005) Hum Genet 119: 1-8
  4. Bendavid et al., (2006) J Med Genet 43: 496-500
  5. Dubourg et al., (2007) Orphan J Rare Dis 2:8
  6. El-Jaik et al., (2007) Mol Genet Metab 90:97-111
  7. Bendavid et al., (2009) Hum Mutat 30: 1175-1182
  8. Lacbawan et al., (2009) J Med Genet 46:389-98
  9. Roessler et al., (2009) Hum Mutat 10:921- 993
  10. Solomon et al., (2009) J Med Genet 47:513-24
  11. Muenke, M. and Gropman, A. Holoprosencephaly Overview, www.genereviews.org. (2010)
  12. Muenke et al., (2010) Am J Med Genet 154C: 52-61
  13. Paulussen et al., (2010) Eur J Hum Genet 18: 999-1005.
  14. Solomon et al., (2010) Am J Med Genet 154C: 133-141

Forms and Documents

Test Details

SHH, SIX3, TGIF, ZIC2
  • Full gene sequencing testing for fetuses with prenatal ultrasound findings suggestive of holoprosencephaly
  • Mutation-specific testing for fetuses with a family history of a known mutation in the SHH, ZIC2, SIX3, or TGIF gene
  • MLPA
  • Next-Gen Sequencing

Ordering

2373
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81265x1, 81479x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Wallis et al., (2000) Human Mutat 16:99-108
  2. Dubourg et al., (2004) Hum Mutat 24: 43-51
  3. Solomon et al., (2010) Am J Med Genet 154C: 133-141
  4. Paulussen et al., (2010) Eur J Hum Genet 18: 999-1005
  5. Muenke et al., (2010) Am J Med Genet 154C: 52-61
  6. Muenke, M. and Gropman, A. Holoprosencephaly Overview, www.genereviews.org. (2010)
  7. Solomon et al., (2009) J Med Genet 47:513-24
  8. Roessler et al., (2009) Hum Mutat 10:921- 993
  9. Lacbawan et al., (2009) J Med Genet 46:389-98
  10. Bendavid et al., (2009) Hum Mutat 30: 1175-1182
  11. El-Jaik et al., (2007) Mol Genet Metab 90:97-111
  12. Dubourg et al., (2007) Orphan J Rare Dis 2:8
  13. Bendavid et al., (2006) J Med Genet 43: 496-500
  14. Bendavid et al., (2005) Hum Genet 119: 1-8