Number of Panel Genes:
24
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 four major types: EB simplex, junctional EB, dystrophic EB and Kindler. Peeling skin syndrome is also included in this panel.
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24 Panel Genes: CAST, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5
Next Generation Sequencing
$1,300
Test Code: 5073
|
Deletion / Duplication
$990
Test Code: 5074
|
NGS/Del Dup Comprehensive
$1,500
Test Code: 5075
|
Test Details
Technical Information
Panel Genes:
CAST, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, 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
CPT Codes:
81479 x 1
81406 x 1
Ordering
SKU:
5073 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- 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.