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Ectrodactyly

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. [...]

+ Mutation-specific testing   + Prenatal testing

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.

+ Mutation-specific testing   + Prenatal testing

Tests Available

TP63 Select Exons Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
TP63 (TP73L)
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing

ORDERING

Test Code:
158
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
List Price:
$970.00
Billing Information:
View Billing Policy
ICD Codes:
  • 755.58: Cleft hand, congenital Lobster-claw hand
  • 374.46: Blepharophimosis Ankyloblepharon
  • 520: Anodontia Absence of teeth (complete) (congenital) (partial), Hypodontia Oligodontia
  • 759.89: Other Congenital malformation syndromes affecting multiple systems
  • 757.31: Congenital ectodermal dysplasia
  • 743.65: Specified congenital anomalies of lacrimal passages Absence, agenesis of: lacrimal apparatus, punctum lacrimale, Accessory lacrimal canal
  • 611: Other disorders of breast
  • 749.1: Cleft lip, unspecified
  • 749.2: Cleft palate with cleft lip, Cheilopalatoschisis

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

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