General Dermatology
DNA Labs India | Diagnostic Tests
General Dermatology
Clinical Overview
Sub-category mapping under Genetics & Genomics
| Reviewed by: Dr. Rajesh Kumar, MD Pathology | ISO 9001:2015 Certified Laboratory
This content is for educational purposes only. Always consult a qualified healthcare provider for medical advice.
Tests
Nx Gen Sequencing: Albinism Test
The purpose of the Nx Gen Sequencing: Albinism Test is to confirm a diagnosis of albinism, identify...
ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test
To diagnose Dyschromatosis Symmetrica Hereditaria by detecting pathogenic mutations in the ADAR gene...
HR Gene Atrichia with papular lesions NGS Genetic Test
To diagnose mutations in the HR gene associated with Atrichia with Papular Lesions for accurate iden...
ENPP1 Gene Cole disease NGS Genetic Test
The purpose of this test is to detect mutations in the ENPP1 gene to diagnose Cole disease, a rare g...
KRT14 Gene Epidermolysis bullosa simplex, autosomal recessive type 1 NGS Genetic Test
The purpose of the KRT14 Gene EBS NGS Genetic Test is to detect mutations in the KRT14 gene that cau...
MMP1 Gene Epidermolysis bullosa dystrophica, autosomal recessive, modifier of NGS Genetic Test
To identify mutations or variations in the MMP1 gene that serve as genetic modifiers for autosomal r...
COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test
To identify mutations in the COL7A1 gene for accurate diagnosis of Epidermolysis Bullosa Dystrophica...
KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test
To identify mutations in the KRT14 gene associated with Epidermolysis Bullosa Simplex, Dowling-Meara...
LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test
The purpose of this test is to identify mutations in the LAMA3 gene using next-generation sequencing...
ITGA6 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test
To diagnose Epidermolysis Bullosa with Pyloric Atresia caused by ITGA6 gene mutations, confirm clini...
PLEC Gene Epidermolysis bullosa simplex, Ogna type NGS Genetic Test
To identify mutations in the PLEC gene for accurate diagnosis of Epidermolysis Bullosa Simplex, Ogna...
DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic Test
To identify mutations in the DST gene responsible for Epidermolysis Bullosa Simplex, Autosomal Reces...
LAMC2 Gene Epidermolysis bullosa, junctional NGS Genetic Test
The purpose of this genetic test is to identify pathogenic mutations in the LAMC2 gene associated wi...
KRT14 Gene Epidermolysis bullosa simplex, Koebner type NGS Genetic Test
The purpose of this test is to identify mutations in the KRT14 gene that cause Epidermolysis Bullosa...
COL17A1 Gene Epidermolysis bullosa, junctional NGS Genetic Test
To identify pathogenic mutations in the COL17A1 gene for the diagnosis of junctional epidermolysis b...
KRT5 Gene Epidermolysis bullosa simplex NGS Genetic Test
To identify mutations in the KRT5 gene for the diagnosis of Epidermolysis Bullosa Simplex (EBS).
KRT14 Gene Epidermolysis bullosa simplex, Weber-Cockayne type NGS Genetic Test
The purpose of the KRT14 Gene NGS Genetic Test is to identify pathogenic mutations in the KRT14 gene...
ITGB4 Gene Epidermolysis bullosa junctionalis with pyloric atresia NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the ITGB4 gene...
LAMA3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic Test
The purpose of the LAMA3 Gene NGS Genetic Test is to identify mutations in the LAMA3 gene associated...
LAMB3 Gene Epidermolysis bullosa, junctional, Herlitz type NGS Genetic Test
To identify pathogenic mutations in the LAMB3 gene for accurate diagnosis and management of junction...
LAMB3 Gene Epidermolysis bullosa, junctional, non-Herlitz type NGS Genetic Test
To identify mutations in the LAMB3 gene for accurate diagnosis of junctional epidermolysis bullosa n...
KRT10 Gene Epidermolytic hyperkeratosis NGS Genetic Test
To diagnose Epidermolytic Hyperkeratosis and determine the specific mutation in the KRT10 gene for t...
DSP Gene Epidermolysis bullosa, lethal acantholytic NGS Genetic Test
To identify mutations in the DSP gene associated with lethal acantholytic epidermolysis bullosa for...
EXPH5 Gene Epidermolysis bullosa, nonspecific, autosomal recessive NGS Genetic Test
To identify mutations in the EXPH5 gene for definitive diagnosis of autosomal recessive epidermolysi...
KRT9 Gene Epidermolytic palmoplantar keratoderma NGS Genetic Test
The purpose of the KRT9 Gene Epidermolytic Palmoplantar Keratoderma NGS Genetic Test is to accuratel...
KRT1 Gene Epidermolytic hyperkeratosis NGS Genetic Test
To confirm the diagnosis of Epidermolytic Hyperkeratosis, identify specific mutations in the KRT1 ge...
CERS3 Gene Ichthyosis, congenital, autosomal recessive, type 9 NGS Genetic Test
The purpose of the CERS3 Gene Ichthyosis NGS Genetic Test is to identify mutations in the CERS3 gene...
STS Gene Ichthyosis, X-linked NGS Genetic Test
To identify mutations in the STS gene for accurate diagnosis and management of X-linked Ichthyosis,...
ABCA12 Gene Ichthyosis, lamellar type 2 NGS Genetic Test
The purpose of the ABCA12 Gene Ichthyosis, Lamellar Type 2 NGS Genetic Test is to accurately diagnos...
LIPN Gene Ichthyosis, lamellar type 4 NGS Genetic Test
To diagnose LIPN gene mutations causing lamellar ichthyosis type 4, enabling accurate identification...
CLDN1 Gene Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the CLDN1 gene to confirm diagnosis of...
SLURP1 Gene Mal de Meleda NGS Genetic Test
To diagnose Mal de Meleda by identifying mutations in the SLURP1 gene using NGS technology, enabling...
ADAM10 Gene Reticulate acropigmentation of Kitamura NGS Genetic Test
The purpose of this test is to identify mutations in the ADAM10 gene for the diagnosis of reticulate...
DSP Gene Skin fragility-woolly hair syndrome NGS Genetic Test
To identify pathogenic mutations in the DSP gene for diagnosis of Skin Fragility-Woolly Hair Syndrom...
SLC24A4 Gene Skin hair eye pigmentation type 6 NGS Genetic Test
The purpose of this test is to detect mutations in the SLC24A4 gene that may cause variations in ski...
CYLD Gene Cylindromatosis, familial NGS Genetic Test
To detect mutations in the CYLD gene for accurate diagnosis of familial cylindromatosis, aiding in c...
Hair Loss DNA Test
The purpose of this test is to identify genetic predisposition to hair loss by analyzing the AR gene...
DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic Test
The purpose of this test is to sequence the DST gene and detect disease-causing mutations associated...
Comprehensive Skin Panel NGS Genetic Test
The purpose of this test is to diagnose genetic skin disorders, identify mutations responsible for s...
PSEN1 Gene Acne inversa familial type 3 NGS Genetic Test
The purpose of the PSEN1 Gene Acne inversa familial type 3 NGS Genetic Test is to confirm the diagno...
ATP2A2 Gene Acrokeratosis verruciformis NGS Genetic Test
To confirm the diagnosis of acrokeratosis verruciformis by identifying mutations in the ATP2A2 gene...
DOCK6 Gene Adams-Oliver syndrome type 2 NGS Genetic Test
To detect mutations in the DOCK6 gene for definitive diagnosis of Adams-Oliver Syndrome Type 2, aidi...
EOGT Gene Adams-Oliver syndrome type 4 NGS Genetic Test
The purpose of this test is to detect mutations in the EOGT gene associated with Adams-Oliver Syndro...
SMARCAD1 Gene Adermatoglyphia NGS Genetic Test
To identify pathogenic mutations in the SMARCAD1 gene for the diagnosis of adermatoglyphia, aiding i...
SLC24A5 Gene Albinism, oculocutaneous nonsyndromic NGS Genetic Test
To diagnose oculocutaneous albinism caused by SLC24A5 gene mutations, guide treatment and management...
TYR Gene Albinism, oculocutaneous type 1A NGS Genetic Test
The purpose of this test is to detect mutations in the TYR gene that cause oculocutaneous albinism t...
TYR Gene Albinism, oculocutaneous type 1B NGS Genetic Test
To detect mutations in the TYR gene for definitive diagnosis of oculocutaneous albinism type 1B, gui...
TYRP1 Gene Albinism, oculocutaneous type 3 NGS Genetic Test
To identify pathogenic variants in the TYRP1 gene for diagnosing oculocutaneous albinism type 3, gui...
SLC45A2 Gene Albinism, oculocutaneous type 4 NGS Genetic Test
The purpose of the SLC45A2 Gene Albinism, Oculocutaneous Type 4 NGS Genetic Test is to diagnose OCA4...
HR Gene Alopecia universalis NGS Genetic Test
To identify mutations in the HR gene associated with alopecia universalis for early diagnosis, sympt...
AMBN Gene Amelogenesis imperfecta type 1F NGS Genetic Test
The purpose of this test is to detect mutations in the AMBN gene associated with Amelogenesis Imperf...
OSMR Gene Amyloidosis, primary localized cutaneous, type 1 NGS Genetic Test
To detect mutations in the OSMR gene for diagnosis of primary localized cutaneous amyloidosis type 1...
IL31RA Gene Amyloidosis, primary localized cutaneous, type 2 NGS Genetic Test
To identify mutations in the IL31RA gene for accurate diagnosis, management, and family counseling i...
FGFR2 Gene Craniofacial-skeletal-dermatologic dysplasia NGS Genetic Test
The purpose of this test is to detect mutations in the FGFR2 gene to confirm a diagnosis of craniofa...
FGFR3 Gene Crouzon syndrome with acanthosis nigricans NGS Genetic Test
To identify pathogenic mutations in the FGFR3 gene associated with Crouzon Syndrome with Acanthosis...
FBLN5 Gene Cutis laxa type 1A, autosomal recessive NGS Genetic Test
The purpose of the FBLN5 Gene Cutis Laxa Type 1A NGS Genetic Test is to detect mutations in the FBLN...
EFEMP2 Gene Cutis laxa type 1B, autosomal recessive NGS Genetic Test
To diagnose Cutis Laxa Type 1B by detecting pathogenic mutations in the EFEMP2 gene using Next-Gener...
FBLN5 Gene Cutis laxa type 2, autosomal dominant NGS Genetic Test
To diagnose Cutis Laxa Type 2 by detecting mutations in the FBLN5 gene using NGS technology, aiding...
PYCR1 Gene Cutis laxa type 2B, autosomal recessive NGS Genetic Test
To diagnose Cutis Laxa Type 2B caused by mutations in the PYCR1 gene, enabling accurate identificati...
ATP6V0A2 Gene Cutis laxa type 2A, autosomal recessive NGS Genetic Test
The purpose of the ATP6V0A2 Gene Cutis Laxa Type 2A NGS Genetic Test is to diagnose Cutis Laxa Type...
ALDH18A1 Gene Cutis laxa type 3A, autosomal recessive NGS Genetic Test
The purpose of the ALDH18A1 Gene Cutis Laxa Type 3A NGS Genetic Test is to detect mutations in the A...
ELN Gene Cutis laxa, autosomal dominant NGS Genetic Test
To identify mutations in the ELN gene for diagnosis of autosomal dominant cutis laxa, assess disease...
PYCR1 Gene Cutis laxa type 3B, autosomal recessive NGS Genetic Test
The purpose of this test is to detect mutations in the PYCR1 gene to confirm a diagnosis of Cutis La...
KRT14 Gene Dermatopathia pigmentosa reticularis NGS Genetic Test
To identify mutations in the KRT14 gene for accurate diagnosis, treatment planning, and management o...
FLG Gene Dermatitis, atopic type 2 NGS Genetic Test
To identify genetic mutations in the FLG gene that contribute to the development of atopic dermatiti...
NOP10 Gene Dyskeratosis congenita, autosomal recessive type 1 NGS Genetic Test
To identify mutations in the NOP10 gene for diagnosis of dyskeratosis congenita, autosomal recessive...
RTEL1 Gene Dyskeratosis congenita, autosomal recessive type 5 NGS Genetic Test
The purpose of this test is to diagnose RTEL1 Gene Dyskeratosis Congenita, Autosomal Recessive Type...
ABCB6 Gene Dyschromatosis universalis hereditaria type 3 NGS Genetic Test
The purpose of the ABCB6 Gene DUH3 NGS Genetic Test is to detect mutations in the ABCB6 gene that ca...
PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic Test
To diagnose PARN Gene Dyskeratosis Congenita, Autosomal Recessive Type 6 by detecting mutations in t...
KRT85 Gene Ectodermal dysplasia type 4, hair/nail type NGS Genetic Test
To detect pathogenic mutations in the KRT85 gene associated with ectodermal dysplasia type 4, hair/n...
GJB6 Gene Ectodermal dysplasia, hidrotic NGS Genetic Test
To identify mutations in the GJB6 gene for accurate diagnosis of ectodermal dysplasia, hidrotic, ena...
EDAR Gene Ectodermal dysplasia, hypohidrotic, autosomal recessive NGS Genetic Test
To diagnose EDAR gene ectodermal dysplasia through genetic testing for accurate identification and m...
EDARADD Gene Ectodermal dysplasia, hypohidrotic, autosomal recessive NGS Genetic Test
The purpose of the EDARADD gene NGS genetic test is to identify mutations in the EDARADD gene respon...
EDA Gene Ectodermal dysplasia, hypohidrotic, X-linked NGS Genetic Test
To identify pathogenic mutations in the EDA gene that cause X-linked hypohidrotic ectodermal dysplas...
IKBKG Gene Ectodermal dysplasia, hypohidrotic, with immune deficiency NGS Genetic Test
To detect mutations in the IKBKG gene responsible for ectodermal dysplasia with immune deficiency, e...
TNXB Gene Ehlers-Danlos syndrome type 3 NGS Genetic Test
To diagnose Ehlers-Danlos Syndrome Type 3 by identifying mutations in the TNXB gene using Next-Gener...
PKP1 Gene Ectodermal dysplasia/skin fragility syndrome NGS Genetic Test
To diagnose ectodermal dysplasia/skin fragility syndrome by identifying mutations in the PKP1 gene u...
COL1A2 Gene Ehlers-Danlos syndrome type 7B NGS Genetic Test
To identify mutations in the COL1A2 gene causing Ehlers-Danlos Syndrome Type 7B for accurate diagnos...
FKBP14 Gene Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the FKBP14 gene that cause Ehlers-Danlo...
ADAMTS2 Gene Ehlers-Danlos syndrome type 7C NGS Genetic Test
To diagnose Ehlers-Danlos Syndrome Type 7C by detecting mutations in the ADAMTS2 gene using NGS tech...
B3GALT6 Gene Ehlers-Danlos syndrome, progeroid type, type 2 NGS Genetic Test
To identify pathogenic mutations in the B3GALT6 gene for definitive diagnosis of Ehlers-Danlos Syndr...
DSG1 Gene Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis and hyper IgE NGS Genetic Test
To diagnose DSG1 gene erythroderma through genetic sequencing, enabling accurate identification of p...
GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test
To diagnose Erythrokeratodermia variabilis et progressive (EKVP) by identifying pathogenic mutations...
GJB4 Gene Erythrokeratodermia variabilis et progressive NGS Genetic Test
The purpose of this test is to detect mutations in the GJB4 gene to confirm a diagnosis of Erythroke...
PORCN Gene Focal dermal hypoplasia NGS Genetic Test
To diagnose Focal Dermal Hypoplasia by analyzing the PORCN gene for mutations using NGS technology,...
GORAB Gene Geroderma osteodysplasticum NGS Genetic Test
To identify mutations in the GORAB gene for diagnosis of Geroderma osteodysplasticum.
MYO5A Gene Griscelli syndrome type 1 NGS Genetic Test
To diagnose Griscelli Syndrome Type 1 by detecting pathogenic mutations in the MYO5A gene using Next...
MLPH Gene Griscelli syndrome type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the MLPH gene to confirm a diagnosis of Griscelli...
CTSC Gene Haim-Munk syndrome NGS Genetic Test
The purpose of the CTSC Gene Haim-Munk Syndrome NGS Genetic Test is to identify mutations in the CTS...
DSC3 Gene Hypotrichosis and recurrent skin vesicles NGS Genetic Test
To identify mutations in the DSC3 gene for accurate diagnosis of hypotrichosis and recurrent skin ve...
APCDD1 Gene Hypotrichosis type 1 NGS Genetic Test
The purpose of the APCDD1 Gene Hypotrichosis Type 1 NGS Genetic Test is to detect pathogenic mutatio...
SNRPE Gene Hypotrichosis type 11 NGS Genetic Test
The purpose of this test is to diagnose SNRPE Gene Hypotrichosis Type 11 by detecting mutations in t...
KRT71 Gene Hypotrichosis type 13 NGS Genetic Test
To diagnose mutations in the KRT71 gene causing hypotrichosis type 13, enabling early management, ge...
RPL21 Gene Hypotrichosis type 12 NGS Genetic Test
The purpose of the RPL21 Gene Hypotrichosis Type 12 NGS Genetic Test is to detect mutations in the R...
CDSN Gene Hypotrichosis type 2 NGS Genetic Test
The purpose of the CDSN Gene Hypotrichosis Type 2 NGS Genetic Test is to identify mutations in the C...
HR Gene Hypotrichosis type 4 NGS Genetic Test
The purpose of this test is to detect mutations in the HR gene to diagnose Hypotrichosis type 4, ena...
KRT74 Gene Hypotrichosis type 3 NGS Genetic Test
To diagnose Hypotrichosis Type 3 by identifying mutations in the KRT74 gene, aiding in clinical mana...
DSG4 Gene Hypotrichosis type 6 NGS Genetic Test
The purpose of this test is to identify mutations in the DSG4 gene to diagnose Hypotrichosis Type 6,...
LPAR6 Gene Hypotrichosis type 8 NGS Genetic Test
To diagnose LPAR6 Gene Hypotrichosis Type 8 through genetic analysis, confirm mutations in the LPAR6...
LIPH Gene Hypotrichosis type 7 NGS Genetic Test
The purpose of this test is to detect mutations in the LIPH gene to confirm a diagnosis of hypotrich...
SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome NGS Genetic Test
To identify pathogenic mutations in the SOX18 gene for accurate diagnosis of Hypotrichosis-lymphedem...
ALOXE3 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test
The purpose of the ALOXE3 Gene NGS Genetic Test is to confirm the diagnosis of congenital nonbullous...
NIPAL4 Gene Ichthyosiform erythroderma, congenital, nonbullous type 1 NGS Genetic Test
To diagnose congenital nonbullous ichthyosiform erythroderma type 1 by detecting pathogenic mutation...
ABCA12 Gene Ichthyosis congenital, Harlequin fetus type NGS Genetic Test
The purpose of the ABCA12 gene NGS genetic test is to confirm the presence of mutations in the ABCA1...
PNPLA1 Gene Ichthyosis congenital, autosomal recessive, PNPLA1 related NGS Genetic Test
To confirm a diagnosis of PNPLA1 gene ichthyosis congenital or to determine carrier status for the c...
SLC27A4 Gene Ichthyosis prematurity syndrome NGS Genetic Test
To detect mutations in the SLC27A4 gene for diagnosis of Ichthyosis Prematurity Syndrome, aiding in...
FLG Gene Ichthyosis vulgaris NGS Genetic Test
To identify mutations in the FLG gene that cause Ichthyosis Vulgaris, confirming diagnosis and guidi...
KRT2 Gene Ichthyosis, bullous type NGS Genetic Test
To confirm the diagnosis of bullous ichthyosis caused by KRT2 gene mutations, guide treatment decisi...
TGM1 Gene Ichthyosis, congenital, autosomal recessive type 1 NGS Genetic Test
To confirm the diagnosis of TGM1 gene ichthyosis by identifying pathogenic mutations in the TGM1 gen...
ST14 Gene Ichthyosis, congenital, autosomal recessive, type 11 NGS Genetic Test
To diagnose congenital ichthyosis autosomal recessive type 11 caused by ST14 gene mutations, enablin...
CYP4F22 Gene Ichthyosis, lamellar type 3 NGS Genetic Test
The purpose of this test is to diagnose lamellar type 3 ichthyosis by identifying pathogenic mutatio...
ADAM17 Gene Inflammatory skin and bowel disease, neonatal, type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the ADAM17 gene to diagnose inflammatory skin and...
IKBKG Gene Incontinentia pigmenti type 2 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the IKBKG gene to confirm a diagnosis...
POMP Gene Keratosis linearis with ichthyosis congenita and sclerosing keratoderma NGS Genetic Test
To identify mutations in the POMP gene for definitive diagnosis of Keratosis linearis with ichthyosi...
MBTPS2 Gene Keratosis follicularis spinulosa declavans, X-linked NGS Genetic Test
To diagnose Keratosis follicularis spinulosa declavans by identifying mutations in the MBTPS2 gene u...
FERMT1 Gene Kindler syndrome NGS Genetic Test
The purpose of the FERMT1 Gene Kindler Syndrome NGS Genetic Test is to identify mutations in the FER...
FBLIM1 Gene Kindler syndrome NGS Genetic Test
The purpose of the FBLIM1 Gene Kindler Syndrome NGS Genetic Test is to diagnose Kindler syndrome by...
DSG1 Gene Keratosis palmoplantaris striata type 1 NGS Genetic Test
To diagnose Keratosis Palmoplantaris Striata Type 1 by identifying mutations in the DSG1 gene using...
DSP Gene Keratosis palmoplantaris striata type 2 NGS Genetic Test
To identify mutations in the DSP gene for diagnosis of Keratosis Palmoplantaris Striata Type 2.
AAGAB Gene Keratoderma, palmoplantar, punctate type 1A NGS Genetic Test
The purpose of the AAGAB Gene Keratoderma NGS Genetic Test is to identify pathogenic mutations in th...
LAMA3 Gene Laryngoonychocutaneous syndrome NGS Genetic Test
To confirm the diagnosis of Laryngoonychocutaneous syndrome by detecting mutations in the LAMA3 gene...
SPRED1 Gene Legius syndrome NGS Genetic Test
To diagnose Legius Syndrome by detecting pathogenic mutations in the SPRED1 gene using NGS technolog...
KRT14 Gene Naegeli-Franceschetti-Jadassohn syndrome NGS Genetic Test
To confirm diagnosis of Naegeli-Franceschetti-Jadassohn syndrome by detecting mutations in the KRT14...
SPINK5 Gene Netherton syndrome NGS Genetic Test
To diagnose Netherton Syndrome by identifying mutations in the SPINK5 gene using next-generation seq...
TRPV3 Gene Olmsted syndrome NGS Genetic Test
To diagnose Olmsted Syndrome by detecting mutations in the TRPV3 gene using Next-Generation Sequenci...
WNT10A Gene Odontoonychodermal dysplasia NGS Genetic Test
To identify mutations in the WNT10A gene for accurate diagnosis of Odontoonychodermal dysplasia, ena...
GNAS Gene Osseous heteroplasia, progressive NGS Genetic Test
The purpose of this test is to detect mutations in the GNAS gene that cause progressive osseous hete...
KRT16 Gene Pachyonychia congenita type 1 NGS Genetic Test
To diagnose Pachyonychia Congenita Type 1 by detecting mutations in the KRT16 gene using NGS technol...
KRT17 Gene Pachyonychia congenita type 2 NGS Genetic Test
To identify mutations in the KRT17 gene for accurate diagnosis of Pachyonychia congenita type 2, aid...
KRT6A Gene Pachyonychia congenita type 3 NGS Genetic Test
The purpose of the KRT6A Gene Pachyonychia Congenita Type 3 NGS Genetic Test is to identify mutation...
KRT6B Gene Pachyonychia congenita type 4 NGS Genetic Test
To identify mutations in the KRT6B gene for accurate diagnosis of Pachyonychia congenita type 4, ena...
KRT16 Gene Palmoplantar keratoderma, nonepidermolytic, focal NGS Genetic Test
The purpose of this test is to confirm a diagnosis of KRT16 Gene Palmoplantar Keratoderma by identif...
TGM5 Gene Peeling skin syndrome type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the TGM5 gene to confirm diagnosis of peeling s...
CDSN Gene Peeling skin syndrome type 1 NGS Genetic Test
To detect mutations in the CDSN gene for diagnosis of Peeling Skin Syndrome Type 1.
CTSC Gene Papillon-Lefevre syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the CTSC gene associated with Papillon-Lefevre...
CHST8 Gene Peeling skin syndrome type 3 NGS Genetic Test
To detect mutations in the CHST8 gene for the diagnosis of Peeling Skin Syndrome Type 3.
CAST Gene Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads NGS Genetic Test
To diagnose PPK-SC by identifying pathogenic mutations in the CAST gene using NGS technology, enabli...
KIT Gene Piebaldism NGS Genetic Test
The purpose of the KIT Gene Piebaldism NGS Genetic Test is to confirm the diagnosis of piebaldism by...
CARD14 Gene Pityriasis rubra pilaris NGS Genetic Test
To identify mutations in the CARD14 gene associated with Pityriasis rubra pilaris (PRP), aiding in d...
SNAI2 Gene Piebaldism NGS Genetic Test
The purpose of the SNAI2 Gene Piebaldism NGS Genetic Test is to identify pathogenic mutations in the...
MVK Gene Porokeratosis type 3, disseminated superficial actinic NGS Genetic Test
The purpose of this test is to confirm the diagnosis of DSAP by identifying mutations in the MVK gen...
ABCC6 Gene Pseudoxanthoma elasticum, forme fruste NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ABCC6 gene using NGS technology...
UROD Gene Porphyria cutanea tarda NGS Genetic Test
The purpose of this test is to diagnose Porphyria Cutanea Tarda by identifying mutations in the UROD...
IL12B Gene Psoriasis susceptibility type 11 NGS Genetic Test
To diagnose genetic susceptibility to psoriasis type 11 by analyzing IL12B gene variants using NGS t...
CARD14 Gene Psoriasis type 2 NGS Genetic Test
To diagnose psoriasis type 2 by identifying mutations in the CARD14 gene using Next Generation Seque...
IL36RN Gene Psoriasis, generalized pustular NGS Genetic Test
To diagnose IL36RN gene mutations associated with psoriasis and generalized pustular psoriasis, aidi...
ZMPSTE24 Gene Restrictive dermopathy, lethal NGS Genetic Test
The purpose of this test is to diagnose restrictive dermopathy by identifying pathogenic variants in...
LMNA Gene Restrictive dermopathy, lethal NGS Genetic Test
To diagnose restrictive dermopathy by detecting pathogenic mutations in the LMNA gene using next-gen...
FBN1 Gene Stiff skin syndrome NGS Genetic Test
The purpose of the FBN1 Gene Stiff Skin Syndrome NGS Genetic Test is to identify mutations in the FB...
KRT17 Gene Steatocystoma multiplex NGS Genetic Test
The purpose of the KRT17 Gene Steatocystoma Multiplex NGS Genetic Test is to detect mutations in the...
MPLKIP Gene Trichothiodystrophy, nonphotosensitive type 1 NGS Genetic Test
To diagnose nonphotosensitive type 1 Trichothiodystrophy by identifying pathogenic mutations in the...
ERCC2 Gene Trichothiodystrophy NGS Genetic Test
To diagnose Trichothiodystrophy by identifying mutations in the ERCC2 gene using NGS technology.
GTF2H5 Gene Trichothiodystrophy NGS Genetic Test
The purpose of the GTF2H5 Gene Trichothiodystrophy NGS Genetic Test is to diagnose Trichothiodystrop...
UVSSA Gene UV-sensitive syndrome type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the UVSSA gene to diagnose UV-sensitive syndrome...
ERCC6 Gene UV-sensitive syndrome type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ERCC6 gene associated with UV-se...
LORICRIN Gene Vohwinkel syndrome with ichthyosis NGS Genetic Test
The purpose of the LORICRIN Gene Vohwinkel Syndrome with Ichthyosis NGS Genetic Test is to diagnose...
SOX10 Gene Waardenburg syndrome type 2E NGS Genetic Test
To identify mutations in the SOX10 gene for accurate diagnosis of Waardenburg Syndrome Type 2E, aidi...
SOX10 Gene Waardenburg syndrome type 4C NGS Genetic Test
The purpose of this test is to identify mutations in the SOX10 gene that cause Waardenburg syndrome...
XPA Gene Xeroderma pigmentosum, group A NGS Genetic Test
To diagnose Xeroderma pigmentosum group A by detecting mutations in the XPA gene using NGS technolog...
ATP6V0A2 Gene Wrinkly skin syndrome NGS Genetic Test
To diagnose Wrinkly Skin Syndrome by identifying mutations in the ATP6V0A2 gene, confirm clinical su...
ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test
The purpose of the ERCC2 Gene Xeroderma pigmentosum, group D NGS Genetic Test is to identify mutatio...
ERCC4 Gene Xeroderma pigmentosum, group F NGS Genetic Test
The purpose of this test is to diagnose Xeroderma pigmentosum, group F by detecting pathogenic mutat...
DDB2 Gene Xeroderma pigmentosum, group E, DDB-negative subtype NGS Genetic Test
The purpose of the DDB2 Gene Xeroderma Pigmentosum, Group E NGS Genetic Test is to identify mutation...
XPC Gene Xeroderma pigmentosum, group C NGS Genetic Test
To diagnose Xeroderma Pigmentosum Group C by detecting mutations in the XPC gene using NGS technolog...
ERCC5 Gene Xeroderma pigmentosum, group G NGS Genetic Test
The purpose of the ERCC5 Gene Xeroderma pigmentosum, group G NGS Genetic Test is to identify mutatio...
POLH Gene Xeroderma pigmentosum, variant type NGS Genetic Test
To diagnose Xeroderma pigmentosum variant type by detecting pathogenic variants in the POLH gene usi...
CYLD Gene Trichoepithelioma, multiple familial, type 1 NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of multiple familial trichoepith...