Genetic Screening for Skin Diseases (2005)

The Department of Dermatology (School of Medicine, Cardiff University) has a well equipped research laboratory that specialises in Cell Biology, Molecular Biology and Molecular Genetic Research into Diseases of the Skin and it appendages. The laboratory focuses on epithelial cell differentiation in normal skin, abnormal differentiation and genetic disease of the skin.

In the last five years we have developed and validated genetic screening tests based principally on DNA from blood samples using PCR, direct sequencing and various non-sequence confirmatory techniques. We are able to rapidly and accurately screen for gene mutations in several genes in a series of genetic skin diseases. The genes and diseases are detailed below.

This work has been conducted on a research basis for 9 years but more recently on a commercial basis. The charges currently made are detailed below. We also have the ability to offer prenatal diagnosis for known mutations in the diseases detailed below with the exception of RXLI (recessive X-linked Ichthyosis).

Please contact us with any requests for genetic screening and we will give you an approximate turn around time depending on the work requested.

Dr Paul Bowden
Dept of Dermatology, School of Medicine
Cardiff University
Heath Park
Cardiff
CF14 4XN
UK

Tel. +44 (0)29 2074 2883
Fax. +44 (0)29 2074 4312

E-mail: Bowden@cf.ac.uk

Smith-Lemli-Opitz Syndrome [SLOS] (DHCR7 Gene)

Cost per Full Screen (exons 3-9): 700-00
Cost per Prenatal (two loci): 250-00

Recessive X-Linked Ichthyosis [RXLI] (STS Gene)

Cost per PCR Exon Deletion Screen: 95-00
Full Exon Screen (under development: Aug 2005): 700-00

Keratinopathies (Keratin Gene Screening)

Epidermolysis Bullosa Simplex [EBS] (K5 & K14)

Cost per Part Screen (KRT5 exons 1, 4+7, KRT14 exons 1, 4+6): 680-00
Cost per Full Screen (KRT5 exons 1-7 and KRT14 exons 1-6): 960-00
Cost per Prenatal (single known locus): 140-00

Epidermolytic Hyperkeratosis [EHK] (K1 & K10)

Cost per Selective Screen (KRT1 exons 1+7, KRT10 exons 1+6): 480-00
Cost per Full Screen (KRT1 exons 1-9 and KRT10 exons 1-8): 960-00
Cost per Prenatal (single known locus): 140-00

Linear Epidermal Naevus [LEN, mosaic EHK] (K1 & K10)*

Cost per Selective Screen (KRT1 exons 1+7, KRT10 exons 1+6): 480-00
Cost per Full Screen (KRT1 exons 1-9 and KRT10 exons 1-8): 960-00
Cost per Prenatal (single known locus): 140-00

* Note this assay requires a skin biopsy and cannot be performed on genomic DNA from blood leucocytes.

Ichthyosis Bullosa of Siemens [IBS] (K2e)

Cost per Selective Screen (KRT2a exons 1+7): 250-00
Cost per Full Screen (KRT2a exons 1-9): 650-00
Cost per Prenatal (single known locus): 140-00

Epidermolytic Hyperkeratosis [EPPK] (K1 & K9)

Cost per Selective Screen (KRT1 exons 1+9, KRT9 exons 1+6): 480-00
Cost per Full Screen (KRT1 exons 1-9 and KRT9 exons 1-8): 960-00
Cost per Prenatal (single known locus): 140-00

Pachyonychia Congenita Type 1 [PC-1] (K6a & K16)

Cost per Selective Screen (KRT6a exons 1+7, KRT16 exons 1+6): 480-00
Cost per Full Screen (KRT6a exons 1-9 and KRT16 exons 1-8): 960-00
Cost per Prenatal (single known locus): 140-00

Pachyonychia Congenita Type 2 [PC-2] (K6b & K17)

Cost per Selective Screen (KRT6b exons 1+7, KRT17 exons 1+6): 480-00
Cost per Full Screen (KRT6b exons 1-9 and KRT17 exons 1-8): 960-00
Cost per Prenatal (single known locus): 140-00

Steatocystoma Multiplex [SM] (K6b & K17)

Cost per Selective Screen (KRT6b exons 1+7, KRT17 exons 1+6): 480-00
Cost per Full Screen (KRT6b exons 1-9 and KRT17 exons 1-8): 960-00
Cost per Prenatal (single known locus): 140-00

Monilethrix (Hb1 & Hb6)

Cost per Selective Screen (KRT-Hb1, -Hb3 + -Hb6, exons 1+7): 680-00
Cost per Full Screen (KRT-Hb1, -Hb3 + -Hb6, exons 1-9): 1250-00
Cost per Prenatal (single known locus): 120-00