Suggested Custom Slice - Palmoplantar keratoderma / congenital ichthyosis

NY Approved

Test Overview

Clinical Utility

  • Analysis of custom gene list (up to 150 genes)

Test Details

Genes

AAGAB, ABCA12, ABHD5, AGPS, ALDH3A2, ALG8, ALOX12B, ALOXE3, AP1S1, AQP5, ARID1B, ARSL (ARSE), ASPRV1, ATP2A2, ATP2C1, CARD14, CASP14, CAST, CDSN, CERS3, CHST8, CLDN1, CLDN10, COG6, COL14A1, COL20A1, CSTA, CTSC, CYP4F22, DOLK, DSC2, DSG1, DSP, EBP, EDA, EDAR, EDARADD, EGFR, ELOVL1, ELOVL4, ENPP1, ERCC2, ERCC3, ERCC5, FAM111B, FAM83G, FECH, FERMT1, FGFR2, FGFR3, FITM2, FLG, FLG2, FOXP3, GJA1, GJB2, GJB3, GJB4, GJB6, GNPAT, GTF2H5, HPGD, HRAS, JUP, KANK2, KDSR, KLHL24, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LIPN, LMNA, LOR, LRP1, MAP2K1, MAP2K2, MBTPS2, MPDU1, NIPAL4, NLRP1, NRAS, ORAI1, P1B1, PERP, PEX5, PEX7, PHGDH, PHYH, PIGL, PIGO, PIK3CA, PMVK, PNPLA1, POMP, PRODH, PSAT1, PSPH, PTPN11, RHBDF2, RIT1, RNF113A, RSPO1, SASH1, SDR9C7, SERPINB7, SERPINB8, SGPL1, SLC27A4, SLC39A4, SLCO2A1, SLURP1, SNAP29, SOS1, SPINK5, SRD5A3, SREBF1, ST14, STAT1, STIM1, STS, SUMF1, TAT, TCF4, TERC, TERT, TGM1, TGM5, TRPM4, TRPV3, TTC7A, VIPAS39, VPS33B, ZMPSTE24

Lab Method

  • Next-Gen Sequencing

Ordering Information

Important Information

Suggested gene lists, tailored to a specific test indication, are reviewed and updated periodically by GeneDx. Certain genes associated with the phenotype may not be included. Ordering providers are encouraged to review the gene list and revise it by adding or subtracting desired genes. Ultimately, the provider is responsible for selecting the appropriate genes based on the patient's phenotype.

Test Code: 706 + CS-PPKCI
CPT Codes*: CPT codes depend on final gene list and are available upon request.
ABN Required: No
Turnaround Time**: 8 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs