Test Code: PNL090

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 (30 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing.

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1800

Description:
Evaluation of patients with suspected ectodermal dysplasia syndromes, characterized by abnormalities in hair, teeth, nails, sweat glands, and skin