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Disease Name: Pycnodysostosis

Genes Covered:

ANTXR1, ARID1B, CDH3, CTSC, CTSK, DKC1, DLX3, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, FGF10, FGFR2, FGFR3, FLNA, FOXN1, GJA1, GJB2, GJB6, GRHL2, HCCS, IFT122, IFT43, IKBKG, KRT14, KRT16, KRT17, KRT81, KRT83, KRT85, KRT86, MBTPS2, MPLKIP, MSX1, NFKBIA, NOP10, OFD1, PEX1, PEX6, PIGL, PKP1, PNPLA6, PORCN, PVRL1, PVRL4, RECQL4, RIPK4, RMRP, RNF113A, ROGDI, SETBP1, TBC1D24, TBX3, TERC, TP63, TRAF6, TRPS1, TWIST2, UBR1, WDR19, WNT10A
Test Details Pricing

Panel: Strand Dermatological Disorders Test

Disorder Category: Ectodermal dysplasias

Turnaround Time: 5-6 weeks from receipt of sample in the lab

Sample Requirement:

  • 1. Blood in EDTA (purple top) tube shipped with ice pack (2-5 ml)
  • 2. Saliva or sputum in collection kit provided by Strand
  • 3. Cheek swab in the collection kit provided by Strand
  • 4. Purified genomic DNA (5-10 μg) in 10 mM Tris buffer (No EDTA)
  • 5. Dry blood spot

On request