Table 4.
Commercial NGS testing companies and clinical tests available in the United States.
| Company | Genodermatoses | Melanoma susceptibility | |
|---|---|---|---|
| EB | Ichthyosis | ||
| GeneDx | 28 CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSP, DST, EXPH5, FERMT1, FLG2, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5 |
49 ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSL (ARSE), CASP14, CDSN, CERS3, CHST8, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, FLG, FLG2, GJB2, GJB3, GJB4, GJB6, KDSR, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, NIPAL4, NSDHL, PEX7, PHGDH, PHYH, PNPLA1, POMP, PSAT1, SDR9C7, SERPINB8, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24 |
9 BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN, RB1, TP53 |
| Fulgent | 13 CD151, COL17A1, COL7A1, DSP, ITGA3, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PLEC |
44 ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CASP14, CERS3, CLDN1, CRYL1, CYP4F22, EBP, ELOVL4, ERCC2, ERCC3, FLG, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2H5, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MPLKIP, NIPAL4, PEX7, PHYH, PNPLA1, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, SUMF1, TGM1, TGM5, VPS33B |
15 BAP1, BRCA2, CDK4, CDKN2A, CHEK2, MC1R, MITF, MUTYH, POT1, PTEN, RB1, SLC45A2, TERT, TP53, TYR |
| Invitae | 46* AAGAB, AQP5, ATP2C1, CAST, CD151, CDSN, COL17A1, COL7A1, CTSC, DSG1, DSP, DST, ENPP1, EXPH5, FERMT1, GJB6, ITGA3, ITGA6, ITGB4, JUP, KANK2, KLHL24, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LAMA3, LAMB3, LAMC2, LOR, PKP1, PLEC, POMP, RHBDF2, RSPO1, SERPINB7, SERPINB8, SLURP1, TAT, TRPV3 |
46 ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, AQP5, CAST, CDSN, CERS3, CLDN1, CYP4F22, EBP, ELOVL1, ELOVL4, GJA1, GJB2, GJB3, GJB4, GJB6, KDSR, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, NIPAL4, PEX7, PHYH, PNPLA1, POMP, SDR9C7, SERPINB7, SERPINB8, SLC27A4, SNAP29, SPINK5, ST14, STS, SULT2B1, SUMF1, TGM1, VPS33B, ZMPSTE24 |
9 BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN, RB1, TP53 |
| Blueprint | 26 ATP2C1, CDSN, COL17A1, COL7A1, CSTA, DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1, GRIP1, ITGA3, ITGA6, ITGB4, KLHL24, KRT1, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5 |
39 ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, CASP14, CDSN, CERS3, CSTA, CYP4F22, EBP, ERCC2, FLG, GJA1, GJB2, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, MPLKIP, NIPAL4, OSMR, PEX7, PHYH, PNPLA1, SDR9C7, SLC27A4, SPINK5, ST14, STS, SUMF1, TGM1, TGM5 |
19 BAP1, BRCA1, BRCA2, CDK4, CDKN2A, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, MITF, POT1, PTCH1, PTEN, SUFU, TP53, WRN, XPA, XPC |
| Prevention Genetics | 18 COL17A1, COL7A1, DSP, DST, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5 |
19 ABCA12, ABHD5, ALOX12B, ALOXE3, AP1S1, CERS3, CLDN1, CYP4F22, KRT1, KRT10, KRT2, KRT9, LIPN, NIPAL4, PNPLA1, POMP, SLC27A4, ST14, TGM1 |
10 BAP1, BRCA2, CDK4, CDKN2A, CHEK2, MITF, POT1, PTEN, RB1, TP53 |
| CTGT | 24 CAST, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5 |
32 ABCA12, ALOX12B, ALOXE3, CASP14, CAST, CDSN, CERS3, CHST8, CSTA, CYP4F22, FLG, FLG2, GJA1, GJB3, GJB4, KDSR, KRT1, KRT10, KRT2, KRT83, LIPN, LOR, MBTPS2, NIPAL4, PNPLA1, POMP, SERPINB8, ST14, STS, SULT2B1, TGM1, TGM5 |
|
*Combined with palmoplantar keratoderma. Numbers show size of gene panel.