List of diseases covered by Ichthyosis NGS panel
| Gene | Condition |
| ABCA12 | Ichthyosis, congenital, autosomal recessive 4A; Ichthyosis, congenital, autosomal recessive 4B (harlequin) |
| ABHD5 | Chanarin-Dorfman syndrome |
| ALDH3A2 | Sjogren-Larsson syndrome |
| ALOX12B | Ichthyosis, congenital, autosomal recessive 2 |
| ALOXE3 | Ichthyosis, congenital, autosomal recessive 3 |
| AP1S1 | MEDNIK syndrome |
| ATP2A2 | Darier disease |
| ATP2C1 | Benign chronic pemphigus (Hailey-Hailey disease) |
| CARD14 | Pityriasis rubra pilaris |
| CASP14 | Ichthyosis, congenital, autosomal recessive 12 |
| CDSN | Hypotrichosis 2; Peeling skin syndrome 1 |
| CERS3 | Ichthyosis, congenital, autosomal recessive 9 |
| CLDN1 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis |
| CYP4F22 | Ichthyosis, congenital, autosomal recessive 5 |
| EBP | Chondrodysplasia punctata, X-linked dominant |
| ELOVL4 | Spinocerebellar ataxia 34 (Giroux Barbeau syndrome) |
| ERCC2 | Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive; Cerebrooculofacioskeletal syndrome 2 |
| ERCC3 | Xeroderma pigmentosum, group B; Trichothiodystrophy 2, photosensitive |
| FLG | Ichthyosis vulgaris; Dermatitis, atopic, susceptibility to, 2 |
| GJB2 | Bart-Pumphrey syndrome; Deafness, autosomal dominant 3A; Deafness, autosomal recessive 1A; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome; Keratoderma, palmoplantar, with deafness; Vohwinkel syndrome |
| GJB3 | Erythrokeratodermia variabilis et progressiva 1; Deafness, autosomal dominant 2B; Deafness, digenic, GJB2/GJB3 |
| GJB4 | Erythrokeratodermia variabilis et progressiva 2 |
| GJB6 | Deafness, digenic, GJB2/GJB6 |
| GTF2H5 | Trichothiodystrophy 3, photosensitive |
| KRT1 | Epidermolytic hyperkeratosis; Ichthyosis histrix, Curth-Macklin type; Ichthyosis, cyclic, with epidermolytic hyperkeratosis; Keratosis palmoplantaris striata III; Palmoplantar keratoderma, epidermolytic; Palmoplantar keratoderma, nonepidermolytic |
| KRT2 | Ichthyosis bullosa of Siemens |
| KRT9 | Palmoplantar keratoderma, epidermolytic |
| KRT10 | Epidermolytic hyperkeratosis; Ichthyosis with confetti; Ichthyosis, cyclic, with epidermolytic hyperkeratosis |
| LIPN | Ichthyosis, congenital, autosomal recessive 8 |
| LORICRIN | Vohwinkel syndrome with ichthyosis |
| MBTPS2 | Keratosis follicularis spinulosa decalvans |
| MPLKIP | Trichothiodystrophy 4, nonphotosensitive |
| NIPAL4 | Ichthyosis, congenital, autosomal recessive 6 |
| NSDHL | CHILD syndrome |
| PEX7 | Peroxisome biogenesis disorder 9B; Rhizomelic chondrodysplasia punctata, type 1 |
| PHYH | Refsum disease |
| PNPLA1 | Ichthyosis, congenital, autosomal recessive 10 |
| POMP | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; Proteasome-associated autoinflammatory syndrome 2 |
| SDR9C7 | Ichthyosis, congenital, autosomal recessive 13 |
| SLC27A4 | Ichthyosis prematurity syndrome |
| SNAP29 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
| SPINK5 | Netherton syndrome |
| ST14 | Ichthyosis, congenital, autosomal recessive 11 |
| STS | Ichthyosis, X-linked |
| SUMF1 | Multiple sulfatase deficiency |
| TGM1 | Ichthyosis, congenital, autosomal recessive 1 |
| TGM5 | Peeling skin syndrome 2 |