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. 2023 Sep 29;10:1218404. doi: 10.3389/fmed.2023.1218404

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.