Epigenhome

Epithelial Genetics Group

Genetic Diagnosis

In close collaboration with Dr David Baty, Molecular Genetics Laboratory, Tayside University Hospitals NHS Trust, we offer fully accredited genetic testing for essentially all keratin gene disorders and a number of other keratinizing disorders. The main conditions and genes for which we offer tests are listed below.

Condition(s)	Gene(s)

Epidermolysis bullosa simplex (EBS)	K5, K14
Bullous congenital ichthyosiform erythroderma (BCIE)	K1, K10
Ichthyosis bullosa of Siemens (IBS)	K2e
Epidermolytic palmoplantar keratoderma (EPPK)	K9
Pachyonychia congenita, types 1&2 (PC-1, PC-2)	K6a, K6b, K16, K17
White sponge nevus (WSN)	K4, K13
Meesmann epithelial corneal dystrophy (MECD)	K3, K12
Monilethrix	hHb1, hHb3, hHb6

Acral peeling skin syndrome (APSS)	TGM5

Ichthyosis vulgaris	FLG

If you require testing for these disorders, please contact Dr David Baty directly using the contact details below.
For other enquiries, contact the group administrator, Jayne Mcfarlane.

Dr David U. Baty
Tel: +44-1382-496271
Email: david.u.baty@tuht.scot.nhs.uk

Web: http://www.humangenetics.org.uk/molgenwlcm

Postal address:
Human Genetics Unit
Level 6
Ninewells Hospital and Medical School
Dundee DD1 9SY
UK

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