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

Ordering

2371
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
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

*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.

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

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

*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.

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

Forms and Documents

Test Details

CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, NODAL, PTCH1, SHH, SIX3, SMAD2, STIL, TDGF1, TGIF1, ZIC2
  • Identification of the specific molecular basis of holoprosencephaly and microform variants
  • Genetic counseling, carrier testing, and recurrence risk assessment
  • Preparation for prenatal testing in future pregnancies

Ordering

TB51
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Extracted DNA

Billing

81479x1; 81405x1
No
Yes
For price inquiries please email zebras@genedx.com

*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.