Number of Panel Genes: 
18

Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of mechanobullous diseases. They are characterized by skin fragility with recurrent blister formation. EB can be divided into 4 major types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler.

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Tests Available

18 Panel Genes: COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, TGM5
Next Generation Sequencing
$1,500
Test Code: 5073
Deletion / Duplication
$1,150
Test Code: 5074
NGS/Del Dup Comprehensive
$2,500
Test Code: 5075

Test Details

Technical Information
Panel Genes: 
COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PKP1, PLEC1, TGM5
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
MIM: 
609796
609638
607655
604536
131760
131900
131800
601001
131960
609352
615028
612138
131950
226670
615425
226700
226650
245660
226730
614748
173650
131750
226600
Billing
Price: 
$1,500
CPT Codes: 
81479 x 16
81406 x 2
Ordering
SKU:
5073
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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