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Dermatology
Comprehensive genetic tests and state-of-the-art research enables best-in-class diagnostics for suspected genetic skin diseases. With severity and underlying effects of dermatological diseases being extremely wide-ranging and highly variable, many different genes are involved. By pinpointing the exact disease-causing variants through our comprehensive genetic testing options, you can provide your patients with precise medical prognosis.
CentoSkin
CentoSkin is our solution for patients displaying skin disorders. Our panel includes genes for hypotricosis, epidermolysis bullosa, and congenital ichthyosis, among others. For melanoma, please check our Oncology section.
| No. of genes: | 72 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCA12 | 607800 | harlequin fetus type of congenital ichthyosis; congenital ichthyosis 4A | AR |
| ALDH18A1 | 138250 | Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 | AD, AR |
| ALOX12B | 603741 | congenital ichthyosis 2 | AR |
| ALOXE3 | 607206 | Ichthyosis, congenital, autosomal recessive 3 | AR |
| AP1S1 | 603531 | MEDNIK syndrome | AR |
| APCDD1 | 607479 | Hypotrichosis 1 | AD |
| ATP6V0A2 | 611716 | autosomal recessive cutis laxa type IIA; Wrinkly skin syndrome | AR |
| ATP7A | 300011 | X-linked distal spinal muscular atrophy type 3; Occipital horn syndrome; Menkes disease | XLR |
| CDSN | 602593 | Hypotrichosis simplex of scalp 1; Peeling skin syndrome | AD, AR |
| CERS3 | 615276 | Ichthyosis, congenital, autosomal recessive 9 | AR |
| CHST8 | 610190 | Peeling skin syndrome 3 | AR |
| CLDN1 | 603718 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | AR |
| COL17A1 | 113811 | junctional epidermolysis bullosa, non-Herlitz type | AD, AR |
| COL7A1 | 120120 | transient bullous dermolysis of the newborn; autosomal dominant epidermolysis bullosa dystrophica; pretibial epidermolysis bullosa dystrophica; epidermiolysis bullosa dystrophica, Bart type; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; nonsyndromic congenital nail disorder type 8 | AD, AR |
| CSTA | 184600 | Peeling skin syndrome 4 | AR |
| CYP4F22 | 611495 | Ichthyosis, congenital, autosomal recessive 5 | AR |
| DSG1 | 125670 | Keratosis palmoplantaris striata I, AD; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE | AD, AR |
| DSG4 | 607892 | Hypotrichosis 6 | AR |
| DSP | 125647 | dilated cardiomyopathy with woolly hair and keratoderma; arrhythmogenic right ventricular dysplasia type 8; lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata II; dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | AD, AR |
| DST | 113810 | Neuropathy, hereditary sensory and autonomic, type VI; Epidermolysis bullosa simplex, autosomal recessive 2 | AR |
| EBP | 300205 | MEND syndrome; Chondrodysplasia punctata, X-linked dominant | XLD, XLR |
| EFEMP2 | 604633 | Cutis laxa, autosomal recessive, type IB | AR |
| ELN | 130160 | Cutis laxa, autosomal dominant 1, ADCL1; Supravalvar aortic stenosis | AD |
| ERCC2 | 126340 | xeroderma pigmentosum complementation group D; photosensitive trichothiodystrophy type 1; cerebrooculofacioskeletal syndrome type 2 | AR |
| ERCC3 | 133510 | Trichothiodystrophy 2, photosensitive | AR |
| EXPH5 | 612878 | Epidermolysis bullosa, nonspecific, autosomal recessive | AR |
| FBLN5 | 604580 | Cutis laxa, autosomal recessive, type IA; hereditary neuropathy with or without age-related macular degeneration | AD, AR |
| FERMT1 | 607900 | Kindler syndrome | AR |
| FLG | 135940 | ichthyosis vulgaris | AD, AR |
| GJB2 | 121011 | Vohwinkel syndrome; keratitis-ichthyosis-deafness syndrome; palmoplantar keratoderma with deafness; Bart-Pumphrey syndrome; nonsyndromic hearing loss; autosomal dominant deafness type 3A; Hystrix-like ichthyosis with deafness | AD, AR, DiD |
| GJB3 | 603324 | erythrokeratoderma variabilis progressive type 1; nonsyndromic hearing loss; Deafness, autosomal dominant 2B | AD, AR, DiD |
| GJB4 | 605425 | erythrokeratodermia variabilis et progressiva type 2 | AD |
| GTF2H5 | 608780 | ||
| HR | 602302 | Hypotrichosis 4; Alopecia universalis; Atrichia with papular lesions | AD, AR |
| ITGA3 | 605025 | Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa | AR |
| ITGA6 | 147556 | epidermolysis bullosa with pyloric atresia | AR |
| ITGB4 | 147557 | Epidermolysis bullosa simplex, Weber-Cockayne type; junctional epidermolysis bullosa, non-Herlitz type; epidermolysis bullosa with pyloric atresia | AD, AR |
| JUP | 173325 | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | AD, AR |
| KRT1 | 139350 | Epidermolytic hyperkeratosis; Palmoplantar keratoderma, epidermolytic; Palmoplantar keratoderma, nonepidermolytic | AD, AR |
| KRT10 | 148080 | Epidermolytic hyperkeratosis | AD, AR |
| KRT14 | 148066 | Dermatopathia pigmentosa reticularis; epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex, recessive 1 | AD, AR |
| KRT2 | 600194 | Ichthyosis, Bullous Type | AD |
| KRT5 | 148040 | epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex, recessive 1 | AD, AR |
| KRT71 | 608245 | Hypotrichosis 13 | AD |
| KRT74 | 608248 | Hypotrichosis 3 | AD, AR |
| LAMA3 | 600805 | junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type; laryngoonychocutaneous syndrome | AR |
| LAMB3 | 150310 | amelogenesis imperfecta type IA; junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type | AD, AR |
| LAMC2 | 150292 | junctional epidermolysis bullosa, non-Herlitz type; junctional epidermolysis bullosa, Herlitz-type | AR |
| LIPH | 607365 | hypotrichosis simplex type 7 | AR |
| LIPN | 613924 | Ichthyosis, congenital, autosomal recessive 8 | AR |
| LORICRIN | 152445 | Vohwinkel syndrome, variant form | AD |
| LPAR6 | 609239 | Hypotrichosis 8 | AR |
| MMP1 | 120353 | Epidermolysis bullosa dystrophica, AR; severe early-onset chronic obstructive pulmonary disease | AR |
| MPLKIP | 609188 | Trichothiodystrophy, nonphotosensitive 1 | AR |
| NIPAL4 | 609383 | Ichthyosis, congenital, autosomal recessive 6 | AR |
| PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
| PHYH | 602026 | Refsum disease | AR |
| PKP1 | 601975 | Ectodermal dysplasia/skin fragility syndrome | AR |
| PLEC | 601282 | epidermolysis bullosa simplex, Ogna type; epidermolysis bullosa simplex with muscular dystrophy; epidermolysis bullosa simplex with pyloric atresia; limb-girdle muscular dystrophy type 2Q | AD, AR |
| PNPLA1 | 612121 | Ichthyosis, congenital, autosomal recessive 10 | AR |
| POMP | 613386 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | AD, AR |
| PYCR1 | 179035 | autosomal recessive cutis laxa type 2B | AR |
| RPL21 | 603636 | Hypotrichosis 12 | AD |
| SLC27A4 | 604194 | Ichthyosis prematurity syndrome | |
| SNAP29 | 604202 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
| SNRPE | 128260 | Hypotrichosis 11 | AD |
| SPINK5 | 605010 | Netherton syndrome | AR |
| ST14 | 606797 | Ichthyosis, congenital, autosomal recessive 11 | AR |
| STS | 300747 | ichthyosis | XLR |
| SUMF1 | 607939 | multiple sulfatase deficiency | AR |
| TGM1 | 190195 | congenital ichthyosis type 1 | AR |
| TGM5 | 603805 | Peeling skin syndrome, acral type | AR |