Netherton syndrome


Description

Netherton syndrome is an autosomal recessive multisystemic disorder characterised by localised or generalised congenital ichthyosis, hair shaft abnormalities (trichorrhexis invaginata), atopic diathesis, immune deficiency and markedly elevated IgE levels. The condition predominantly affects females. Some infants with Netherton syndrome develop progressive hypernatremic dehydration, failure to thrive, and enteropathy. These complications can be fatal. NS is caused by mutations in the SPINK5 gene on chromosome 5q32, encoding the serine protease inhibitor LEKTI.

Also known as

Com�l-Netherton syndrome,NS


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Additional information

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Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

40 days


Disease / group

SPINK5


Cost

Upon request


Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


Genetics

The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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