Skin

SkinFor skin disorders we offer exome sequencing diagnostics, multiple gene diagnostics and single gene diagnostics.

Below you can find all the skin disorders we currently offer. Please click on a disorder for more information about the price and to place your order. You can also visit our ordering site directly.


Exome sequencing diagnostics:
 

Multiple gene diagnostics:
 


Single gene diagnostics:
  Updated 9th of March 2018

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

 

A

Acral peeling skin syndrome
Acrodermatitis enteropathica
Alopecia universalis
Arthrogryposis, renal dysfuntion and cholestasis 2

B

Basan syndrome
Birt-Hogg-Dubé syndrome
Buschke-Ollendorff syndrome

C

C1q-deficiency
Chanarin-Dorfman syndrome
CHILD syndrome
CLOVE(S) syndrome/ macrodactyly
Cowden syndrome
Cutaneous malignant melanoma
Cutis laxa (elastolysis), autosomal recessive
Cutis laxa, autosomal dominant

D

Darier-White
Distal arthrogryposis
Dowling-Degos
Dyskeratosis congenita
Dystrophic epidermolysis bullosa

E

Ehlers-Danlos syndrome
Epidermolytic ichthyosis
Erythrokeratodermia variabilis

F

Focal dermal hypoplasia
Focal palmoplantar keratoderma

G

Glucocorticoid deficiecy

H

Hailey-Hailey
Hennekam syndrome
Hereditary lymphedema
Hypertrophic osteoarthropathy, primary
Hypotrichosis Marie Unna

I

Ichthyosis
Ichthyosis prematurity syndrome
Ichthyosis vulgaris/Atopic dermatitis
Ichthyosis-hypotrichosis-sclerosing-cholangitis

K

Keratitis-ichthyosis-deafness syndrome

L

Lowe oculocerebrorenal syndrome
Lymphedema-distichiasis syndrome

M

Mal de Meleda
Melanoma-pancreatic cancer syndrome
Milroy-like lymphedema
Monilethrix
Multiple cutaneous and mucosal venous malformations

N

Nonne-Milroy lymphedema

O

Odonto onychodermal dysplasia
Oligodontia and colorectal cancer

P

Pachyonychia congenita
Palmoplantar keratoderma
Papillon-Lefevre syndrome
Piebaldism
Pityriasis rubra pilaris
Primary hypertrophic osteoarthropathy
Proteus syndroom

S

Sjogren-Larsson syndrome
Skin disorders (WES)
Sneddon syndrome
Sturge-Weber syndrome

T

Tooth Agenesis
Torg-Winchester syndrome

V

Vohwinkel syndrome with ichthyosis

W

Witkop syndrome