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Test Code: PNL090

Ectodermal dysplasia (30 Genes)

Genodermatology
Evaluation of patients with suspected ectodermal dysplasia syndromes, characterized by abnormalities in hair, teeth, nails, sweat glands, and skin
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing

Genes Analyzed

30 genes
CAMK2B CDH3 EDA EDA2R EDAR EDARADD FZD6 GJB6 GREM2 GRHL2 HOXC13 IKBKG JUP MBTPS2 KDF1 KREMEN1 KRT14 KRT74 KRT85 MSX1 NECTIN1 NECTIN4 NFKBIA ORAI1 PKP1 PRKD1 TP63 TRAF6 TWIST2 WNT10A

Methodology

Capture-based target enrichment and Next Generation Sequencing.
Test Actions
Specifications
  • Test Code PNL090
  • Category Genodermatology
  • Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
  • TAT 3 weeks days
  • Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
  • Genes 30 genes analyzed
Related Tests
Cartilage-hair hypoplasia and anauxetic dysplasia spectrum disorders (11 Genes) PNL037
Epidermolysis bullosa (29 Genes) PNL092
Poikiloderma spectrum (4 Genes) PNL210
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