Dermatology Panels focus on genes associated with skin disorders, including genetic skin diseases, blistering diseases, pigmentary disorders, and connective tissue disorders. These panels can identify mutations in genes involved in skin structure, pigmentation, and immune function.
Test ID | Disorder | Genes |
---|---|---|
DRMT_001 | Adipose tissue disorders (eg: Alström syndrome, Coffin-Lowry syndrome, Carpenter syndrome, Carney complex) | 38 genes |
DRMT_002 | Blistering diseases (eg: Darier disease, Epidermolysis bullosa, Peeling skin syndrome) | 35 genes |
DRMT_003 | Cornification disorders (eg: Ichthyosis, Palmoplantar keratoderma, Sjogren-Larsson syndrome) | 95 genes |
DRMT_004 | Cutaneous vasculature disorders (eg: Hereditary angioedema, Bannayan-Riley-Ruvalcaba syndrome, Emberger syndrome) | 17 genes |
DRMT_005 | Disorders of collagen, elastin and dermal matrix (eg: Cutis laxa, Marfan syndrome, Occipital horn syndrome, Ehlers-Danlos syndrome, Pseudoxanthoma elasticum,) | 42 genes |
DRMT_006 | DNA repair disorders with cutaneous features (eg: Bloom syndrome, Cockayne syndrome, Xeroderma pigmentosum, Werner syndrome) | 18 genes |
DRMT_007 | Ectodermal dysplasias (eg: Hypohidrotic ectodermal dysplasia, Johanson-Blizzard syndrome, Ellis-van Creveld syndrome, Orofaciodigital syndrome) | 63 genes |
DRMT_008 | Hair disorders (eg: Menkes disease, Atrichias, Skin fragility-woolly hair syndrome, Hypotrichosis, Trichothiodystrophy) | 62 genes |
DRMT_009 | Hamartoneoplastic syndromes (eg: Costello syndrome, Cowden syndrome, Neurofibromatosis, Noonan syndrome, Tuberous sclerosis) | 23 genes |
DRMT_010 | Naevi and other abnormalities | 7 genes |
DRMT_011 | Nails and nail growth defects (eg: Dyskeratosis congenita, Nail-patella syndrome, Weaver syndrome) | 90 genes |
DRMT_012 | Pigmentation disorders (eg: Oculocutaneous albinism, Hermansky-Pudlak syndrome, Incontinentia pigmenti, Waardenburg syndrome) | 41 genes |
DRMT_013 | Poikiloderma syndromes (eg: Rapadilino syndrome, Baller-Gerold syndrome) | 12 genes |
DRMT_014 | Premature ageing syndromes (eg: Hutchinson-Gilford progeria, Finnish type amyloidosis) | 19 genes |
Methodology: | NGS |
Sample Type | Container | Shipping Conditions | Max Transit Time |
---|---|---|---|
Blood | EDTA Tube | 4–8 °C | 72 hrs |
Saliva | Saliva Collection Kit | 4–8 °C | 48 hrs |
Genomic DNA | 1.5 ml Eppendorf Tube | 4–8 °C | 48 hrs |
Dry Blood Spot | Whatmann Paper | RT | 72 hrs |
Cheek/Buccal Swab | Saliva Collection Kit | 4–8 °C | 48 hrs |
21 Days