Focal dermal hypoplasia (FDH; MIM 305600), also known as Goltz syndrome or Goltz-Gorlin syndrome is an X-linked dominant disorder caused by mutations in the PORCN gene. PORCN encodes a putative O-acyltransferase involved in palmitoylation of Wnt signaling proteins which play important roles in embryonic development. Individuals with PORCN mutations have defects in ectodermal and mesodermal more

Tests Available

By gene: PORCN
Next Generation Sequencing
Test Code: 1153
Deletion / Duplication
Test Code: 1154
NGS/Del Dup Comprehensive
Test Code: 1552

Test Details

Technical Information
Disease Groups: 
Eye Disorders
Skeletal Dysplasias
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

Search Tests

TIP: enter a partial disorder name or gene to widen your search