Dermatology
The symptoms and severity of dermatological diseases are extremely broad and highly variable. Most skin diseases are polygenic, meaning that — many different genes are involved. By identifying disease-causing variants through our comprehensive genetic tests, you can provide your patients with a more 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: | 152 |
| TAT: | 25 days |
| Coverage: | ≥99.0% ≥20x |
| Details: | CNV analysis included |
Overview of Genes and Associated Diseases (OMIM) Included in This Panel
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCA12 | 607800 | Ichthyosis, congenital, autosomal recessive 4A;Ichthyosis, congenital, autosomal recessive 4B (harlequin) | AR |
| ABHD5 | 604780 | Chanarin-Dorfman syndrome | AR |
| ACD | 609377 | ?Dyskeratosis congenita, AD 6;?Dyskeratosis congenita, autosomal recessive 7 | AD, AR |
| ALAD | 125270 | Porphyria, acute hepatic;Lead poisoning, susceptibility to | AR |
| ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked;Anemia, sideroblastic, 1 | XL, XLR |
| ALDH18A1 | 138250 | Cutis laxa, AD 3;Cutis laxa, autosomal recessive, type IIIA;Spastic paraplegia 9B, AR;Spastic paraplegia 9A, AD | AD, AR |
| ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
| ALOX12B | 603741 | Ichthyosis, congenital, autosomal recessive 2 | AR |
| ALOXE3 | 607206 | Ichthyosis, congenital, autosomal recessive 3 | AR |
| AP1S1 | 603531 | MEDNIK syndrome | AR |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
| AP3D1 | 607246 | ?Hermansky-Pudlak syndrome 10 | AR |
| APCDD1 | 607479 | Hypotrichosis 1 | AD |
| ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
| ARSL | 300180 | Chondrodysplasia punctata, XLR | XLR |
| ATP6V0A2 | 611716 | Cutis laxa, autosomal recessive, type IIA;Wrinkly skin syndrome | AR |
| ATP7A | 300011 | Menkes disease;Occipital horn syndrome;Spinal muscular atrophy, distal, X-linked 3 | XLR |
| BLOC1S3 | 609762 | Hermansky-Pudlak syndrome 8 | AR |
| BLOC1S6 | 604310 | ?Hermansky-pudlak syndrome 9 | AR |
| CASP14 | 605848 | Ichthyosis, congenital, autosomal recessive 12 | AR |
| CDSN | 602593 | Peeling skin syndrome 1;Hypotrichosis 2 | AR, AD |
| 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 | Epithelial recurrent erosion dystrophy;Epidermolysis bullosa, junctional, localisata variant;Epidermolysis bullosa, junctional, non-Herlitz type | AD, AR |
| COL7A1 | 120120 | Epidermolysis bullosa dystrophica, AR;Epidermolysis bullosa dystrophica, AD;Epidermolysis bullosa pruriginosa;Transient bullous of the newborn;Epidermolysis bullosa, pretibial;Toenail dystrophy, isolated;EBD, Bart type;EBD inversa | AR, AD, AD, AR |
| CPOX | 612732 | Harderoporphyria;Coproporphyria | AR, AD, AR |
| CSTA | 184600 | Peeling skin syndrome 4 | AR |
| CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
| CYP4F22 | 611495 | Ichthyosis, congenital, autosomal recessive 5 | AR |
| DKC1 | 300126 | Dyskeratosis congenita, XL | XLR |
| DLL4 | 605185 | Adams-Oliver syndrome 6 | AD |
| DOCK6 | 614194 | Adams-Oliver syndrome 2 | 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 | Cardiomyopathy, dilated, with woolly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8;Keratosis palmoplantaris striata II;Skin fragility-woolly hair syndrome;Epidermolysis bullosa, lethal acantholytic;Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | AR, AD |
| DST | 113810 | ?Neuropathy, hereditary sensory and autonomic, type VI;Epidermolysis bullosa simplex, autosomal recessive 2 | AR |
| DTNBP1 | 607145 | Hermansky-Pudlak syndrome 7 | AR |
| EBP | 300205 | MEND syndrome;Chondrodysplasia punctata, XLD | XLR, XLD |
| EDA | 300451 | Tooth agenesis, selective, X-linked 1;Ectodermal dysplasia 1, hypohidrotic, XL | XLD, XLR |
| EDAR | 604095 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, AR;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, AD;[Hair morphology 1, hair thickness] | AR, AD |
| EDARADD | 606603 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, AD;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, AR | AD, AR |
| EDN3 | 131242 | Waardenburg syndrome, type 4B;Hirschsprung disease, susceptibility to, 4;Central hypoventilation syndrome, congenital | AD, AR, AD |
| EDNRB | 131244 | Waardenburg syndrome, type 4A;Hirschsprung disease, susceptibility to, 2;ABCD syndrome | AD, AR, AD, AR |
| EFEMP2 | 604633 | Cutis laxa, autosomal recessive, type IB | AR |
| ELN | 130160 | Cutis laxa, AD;Supravalvar aortic stenosis | AD |
| ELOVL4 | 605512 | Ichthyosis, spastic quadriplegia, and mental retardation;Stargardt disease 3;Spinocerebellar ataxia 34 | AR, AD |
| EOGT | 614789 | Adams-Oliver syndrome 4 | AR |
| EPG5 | 615068 | Vici syndrome | AR |
| ERCC2 | 126340 | ?Cerebrooculofacioskeletal syndrome 2;Xeroderma pigmentosum, group D;Trichothiodystrophy 1, photosensitive | AR |
| ERCC3 | 133510 | Xeroderma pigmentosum, group B;Trichothiodystrophy 2, photosensitive | AR |
| EXPH5 | 612878 | Epidermolysis bullosa, nonspecific, AR | AR |
| FBLN5 | 604580 | Cutis laxa, autosomal recessive, type IA;Neuropathy, hereditary, with or without age-related macular degeneration;Macular degeneration, age-related, 3;?Cutis laxa, AD 2 | AR, AD |
| FECH | 612386 | Protoporphyria, erythropoietic, 1 | AR |
| FERMT1 | 607900 | Kindler syndrome | AR |
| FLG | 135940 | Ichthyosis vulgaris;Dermatitis, atopic, susceptibility to, 2 | AD, AR |
| FLG2 | 616284 | Peeling skin syndrome 6 | AR |
| GJB2 | 121011 | Keratoderma, palmoplantar, with deafness;Keratitis-ichthyosis-deafness syndrome;Deafness, AD 3A;Hystrix-like ichthyosis with deafness;Bart-Pumphrey syndrome;Vohwinkel syndrome;Deafness, autosomal recessive 1A | AD, AR, DD |
| GJB3 | 603324 | Deafness, AD 2B;Erythrokeratodermia variabilis et progressiva 1;Deafness, digenic, GJB2/GJB3 | AD, AD, AR, AR, DD |
| GJB4 | 605425 | Erythrokeratodermia variabilis et progressiva 2 | AD |
| GJB6 | 604418 | Deafness, autosomal recessive 1B;Deafness, digenic GJB2/GJB6;Ectodermal dysplasia 2, Clouston type;Deafness, AD 3B | AR, AR, DD, AD |
| GPR143 | 300808 | Nystagmus 6, congenital, X-linked;Ocular albinism, type I, Nettleship-Falls type | XLR, XL |
| GTF2H5 | 608780 | Trichothiodystrophy 3, photosensitive | |
| HMBS | 609806 | Porphyria, acute intermittent;Porphyria, acute intermittent, nonerythroid variant | AD |
| HPS1 | 604982 | Hermansky-Pudlak syndrome 1 | AR |
| HPS3 | 606118 | Hermansky-Pudlak syndrome 3 | AR |
| HPS4 | 606682 | Hermansky-Pudlak syndrome 4 | AR |
| HPS5 | 607521 | Hermansky-Pudlak syndrome 5 | AR |
| HPS6 | 607522 | Hermansky-Pudlak syndrome 6 | AR |
| HR | 602302 | Alopecia universalis;Atrichia with papular lesions;Hypotrichosis 4 | AR, AD |
| ITGA3 | 605025 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | AR |
| ITGA6 | 147556 | Epidermolysis bullosa, junctional, with pyloric stenosis | AR |
| ITGB4 | 147557 | Epidermolysis bullosa, junctional, non-Herlitz type;Epidermolysis bullosa of hands and feet;Epidermolysis bullosa, junctional, with pyloric atresia | AR, AD |
| JUP | 173325 | Arrhythmogenic right ventricular dysplasia 12;Naxos disease | AD, AR |
| KCTD1 | 613420 | Scalp-ear-nipple syndrome | AD |
| KDSR | 136440 | Erythrokeratodermia variabilis et progressiva 4 | AR |
| KITLG | 184745 | [Skin/hair/eye pigmentation 7, blond/brown hair];Deafness, AD 69, unilateral or asymmetric;Hyperpigmentation with or without hypopigmentation | AD |
| KRT1 | 139350 | Ichthyosis histrix, Curth-Macklin type;Epidermolytic hyperkeratosis;Keratosis palmoplantaris striata III;Ichthyosis, cyclic, with epidermolytic hyperkeratosis;Palmoplantar keratoderma, epidermolytic;Palmoplantar keratoderma, nonepidermolytic | AD, AD, AR |
| KRT10 | 148080 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis;Epidermolytic hyperkeratosis;Ichthyosis with confetti | AD, AD, AR |
| KRT14 | 148066 | Epidermolysis bullosa simplex, Weber-Cockayne type;Epidermolysis bullosa simplex, recessive 1;Dermatopathia pigmentosa reticularis;Epidermolysis bullosa simplex, Dowling-Meara type;Naegeli-Franceschetti-Jadassohn syndrome;Epidermolysis bullosa simplex, Koebner type | AD, AR |
| KRT2 | 600194 | Ichthyosis bullosa of Siemens | AD |
| KRT5 | 148040 | Epidermolysis bullosa simplex-MP;Epidermolysis bullosa simplex, Koebner type;Epidermolysis bullosa simplex, recessive 1;Epidermolysis bullosa simplex, Weber-Cockayne type;Epidermolysis bullosa simplex 2B, generalized intermediate;Epidermolysis bullosa simplex 2A, generalized severe;Epidermolysis bullosa simplex-MCR;Dowling-Degos disease 1;Epidermolysis bullosa simplex 2C, localized;Epidermolysis bullosa simplex, Dowling-Meara type;Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, AR | AD, AR |
| KRT74 | 608248 | Woolly hair, AD;?Ectodermal dysplasia 7, hair/nail type;?Hypotrichosis 3 | AD, AR |
| KRT85 | 602767 | Ectodermal dysplasia 4, hair/nail type | AR |
| KRT9 | 607606 | Palmoplantar keratoderma, epidermolytic | AD |
| LAMA3 | 600805 | Laryngoonychocutaneous syndrome;Epidermolysis bullosa, junctional, Herlitz type;Epidermolysis bullosa, generalized atrophic benign | AR |
| LAMB3 | 150310 | Epidermolysis bullosa, junctional, non-Herlitz type;Amelogenesis imperfecta, type IA;Epidermolysis bullosa, junctional, Herlitz type | AR, AD |
| LAMC2 | 150292 | Epidermolysis bullosa, junctional, non-Herlitz type;Epidermolysis bullosa, junctional, Herlitz type | AR |
| LIPH | 607365 | Woolly hair, autosomal recessive 2 with or without hypotrichosis;Hypotrichosis 7 | AR |
| LIPN | 613924 | Ichthyosis, congenital, autosomal recessive 8 | AR |
| LORICRIN | 152445 | Vohwinkel syndrome with ichthyosis | AD |
| LPAR6 | 609239 | Woolly hair, autosomal recessive 1, with or without hypotrichosis;Hypotrichosis 8 | AR |
| LRMDA | 614537 | Albinism, oculocutaneous, type VII | AR |
| LYST | 606897 | Chediak-Higashi syndrome | AR |
| MBTPS2 | 300294 | Osteogenesis imperfecta, type XIX;?Olmsted syndrome, X-linked;Keratosis follicularis spinulosa decalvans, X-linked;IFAP syndrome with or without BRESHECK syndrome | XLR |
| MC1R | 155555 | [Skin/hair/eye pigmentation 2, blond hair/fair skin];[Skin/hair/eye pigmentation 2, red hair/fair skin];Melanoma, cutaneous malignant, 5;UV-induced skin damage;[Analgesia from kappa-opioid receptor agonist, female-specific];Albinism, oculocutaneous, type II, modifier of | AR |
| MITF | 156845 | Melanoma, cutaneous malignant, susceptibility to, 8;Waardenburg syndrome, type 2A;Waardenburg syndrome/ocular albinism, digenic;Tietz albinism-deafness syndrome;COMMAD syndrome | AD, AR |
| MLPH | 606526 | Griscelli syndrome, type 3 | AR |
| MMP1 | 120353 | COPD, rate of decline of lung function in;Epidermolysis bullosa dystrophica, autosomal recessive, modifier of | AR |
| MPLKIP | 609188 | Trichothiodystrophy 4, nonphotosensitive | AR |
| MYH9 | 160775 | Deafness, AD 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD |
| MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
| NECTIN1 | 600644 | Orofacial cleft 7;Cleft lip/palate-ectodermal dysplasia syndrome | AR |
| NHP2 | 606470 | Dyskeratosis congenita, autosomal recessive 2 | AR |
| NIPAL4 | 609383 | Ichthyosis, congenital, autosomal recessive 6 | AR |
| NOP10 | 606471 | Dyskeratosis congenita, autosomal recessive 1 | AR |
| NOTCH1 | 190198 | Adams-Oliver syndrome 5;Aortic valve disease 1 | AD |
| NSDHL | 300275 | CK syndrome;CHILD syndrome | XLR, XLD |
| OCA2 | 611409 | Albinism, oculocutaneous, type II;[Skin/hair/eye pigmentation 1, blue/nonblue eyes];[Skin/hair/eye pigmentation 1, blond/brown hair];Albinism, brown oculocutaneous | AR |
| PARN | 604212 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4;Dyskeratosis congenita, autosomal recessive 6 | AD, AR |
| PAX3 | 606597 | Waardenburg syndrome, type 3;Rhabdomyosarcoma 2, alveolar;Craniofacial-deafness-hand syndrome;Waardenburg syndrome, type 1 | AD, AR, SM, AD |
| PEX7 | 601757 | Peroxisome biogenesis disorder 9B;Rhizomelic chondrodysplasia punctata, type 1 | AR |
| PHGDH | 606879 | Phosphoglycerate dehydrogenase deficiency;Neu-Laxova syndrome 1 | 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 nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Muscular dystrophy, limb-girdle, autosomal recessive 17 | AD, AR |
| PNPLA1 | 612121 | Ichthyosis, congenital, autosomal recessive 10 | AR |
| POMP | 613386 | Proteasome-associated autoinflammatory syndrome 2;Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | AD, AR |
| PPOX | 600923 | Porphyria variegata | AD |
| PSAT1 | 610936 | Neu-Laxova syndrome 2;?Phosphoserine aminotransferase deficiency | AR |
| PYCR1 | 179035 | Cutis laxa, autosomal recessive, type IIB;Cutis laxa, autosomal recessive, type IIIB | AR |
| RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
| RBPJ | 147183 | Adams-Oliver syndrome 3 | AD |
| RPL21 | 603636 | Hypotrichosis 12 | AD |
| RTEL1 | 608833 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3;Dyskeratosis congenita, AD 4;Dyskeratosis congenita, autosomal recessive 5 | AD, AD, AR |
| SDR9C7 | 609769 | Ichthyosis, congenital, autosomal recessive 13 | AR |
| SERPINB8 | 601697 | Peeling skin syndrome 5 | AR |
| SLC24A5 | 609802 | Albinism, oculocutaneous, type VI;[Skin/hair/eye pigmentation 4, fair/dark skin] | AR |
| SLC27A4 | 604194 | Ichthyosis prematurity syndrome | AR |
| SLC38A8 | 615585 | Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis | AR |
| SLC45A2 | 606202 | [Skin/hair/eye pigmentation 5, black/nonblack hair];[Skin/hair/eye pigmentation 5, dark/fair skin];Albinism, oculocutaneous, type IV;[Skin/hair/eye pigmentation 5, dark/light eyes] | AR |
| SNAI2 | 602150 | Waardenburg syndrome, type 2D;Piebaldism | AR, AD |
| SNAP29 | 604202 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
| SNRPE | 128260 | Hypotrichosis 11 | AD |
| SOX10 | 602229 | Waardenburg syndrome, type 4C;PCWH syndrome;Waardenburg syndrome, type 2E, with or without neurologic involvement | AD |
| SPINK5 | 605010 | Netherton syndrome | AR |
| ST14 | 606797 | Ichthyosis, congenital, autosomal recessive 11 | AR |
| STS | 300747 | Ichthyosis, XL | XLR |
| SUMF1 | 607939 | Multiple sulfatase deficiency | AR |
| TERT | 187270 | Melanoma, cutaneous malignant, 9;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;Dyskeratosis congenita, AD 2;Leukemia, acute myeloid;Dyskeratosis congenita, autosomal recessive 4 | AD, AD, AR, AD, SM |
| TGM1 | 190195 | Ichthyosis, congenital, autosomal recessive 1 | AR |
| TGM5 | 603805 | Peeling skin syndrome 2 | AR |
| TINF2 | 604319 | Revesz syndrome;Dyskeratosis congenita, AD 3 | AD |
| TYR | 606933 | [Skin/hair/eye pigmentation 3, light/dark/freckling skin];Waardenburg syndrome/albinism, digenic;[Skin/hair/eye pigmentation 3, blue/green eyes];Melanoma, cutaneous malignant, susceptibility to, 8;Albinism, oculocutaneous, type IA;Albinism, oculocutaneous, type IB | AD, AR |
| TYRP1 | 115501 | [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)];Albinism, oculocutaneous, type III | AR |
| UROD | 613521 | Porphyria, hepatoerythropoietic;Porphyria cutanea tarda | AD, AR |
| UROS | 606938 | Porphyria, congenital erythropoietic | AR |
| USB1 | 613276 | Poikiloderma with neutropenia | AR |
| VPS33B | 608552 | Arthrogryposis, renal dysfunction, and cholestasis 1 | AR |
| WNT10A | 606268 | Odontoonychodermal dysplasia;Tooth agenesis, selective, 4;Schopf-Schulz-Passarge syndrome | AR, AD, AR |
| WRAP53 | 612661 | Dyskeratosis congenita, autosomal recessive 3 | AR |
| ZMPSTE24 | 606480 | Restrictive dermopathy, lethal;Mandibuloacral dysplasia with type B lipodystrophy | AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Congenital ichthyosis
- Cutis laxa
- Epidermolysis bullosa
- Ichthyosis extended
- Non-syndromic hypotrichosis
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