Number of Panel Genes: 
7

Erythrokeratodermias are a clinically and genetically heterogeneous group of skin disorders. They are characterized by localized or generalized erythematous hyperkeratotic plaques. The findings are limited to skin in erythrokeratodermia variabilis et progressiva and Vohwinkel syndrome.

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Tests Available

7 Panel Genes: DSP, GJA1, GJB3, GJB4, KDSR, KRT83, LOR
Next Generation Sequencing
$1,100
Test Code: 5373
Deletion / Duplication
$990
Test Code: 5374
NGS/Del Dup Comprehensive
$1,300
Test Code: 5375

Test Details

Technical Information
Panel Genes: 
DSP, GJA1, GJB3, GJB4, KDSR, KRT83, LOR
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$1,100
CPT Codes: 
81406 x 1
81479 x 6
Ordering
SKU:
5373
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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