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 tissues.read more

Tests Available

By gene: PORCN
Next Generation Sequencing
$990
Test Code: 1153
Deletion / Duplication
$990
Test Code: 1154
NGS/Del Dup Comprehensive
$1,365
Test Code: 1552

Test Details

Technical Information
Genes: 
PORCN
Disease Groups: 
Eye Disorders
Skeletal Dysplasias
Skin, Tooth, Nail and Hair Disorders
MIM: 
305600
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1153
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: 4 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: 4 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)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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