Hay-Wells Syndrome

EEC consists of limb malformations, ectodermal dysplasia, and cleft lip and palate (in ~40% of patients; isolated cleft lip or palate is rare). The disorder shows variable expressivity and reduced penetrance. The ectodermal dysplasia in EEC is characterized by hypohidrosis, hypotrichosis, and anodontia. The limb anomalies include ectrodactyly (in 2/3 of patients), split-hand/split-foot, or polysyndactyly. Associated findings may include lacrimal-duct abnormalities, urinary tract anomalies, dysmorphic facies, and developmental delay.

Tests Available

Forms and Documents

Test Details

TP73L (TP63)
  • Hotspot analysis for fetuses with prenatal ultrasound findings suggestive of EEC or related syndromes.
  • Mutation-specific testing for fetuses with a family history of a known TP73L (TP63) mutation
  • Capillary Sequencing

Ordering

407
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

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

Forms and Documents

Test Details

TP73L (TP63)
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

158
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

References

  1. Rinne, T. et al., (2006) Update. Am J Med Genet A. 140A: 1396-1406
  2. van Bokhoven, H. et al., (2001) Am J Hum Genet. 69: 481-92, 2001
  3. van Bokhoven, H. and Brunner, H., (2002) Am J Hum Genet. 71: 1-13