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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

COMMON SYNDROMES AND DISORDERS COVERED

Congenital ichthyosis
Cutis laxa
Epidermolysis bullosa
Ichthyosis extended
Non-syndromic hypotrichosis

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