Netherton syndrome


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

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

40 days

Disease / group



Upon request

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


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

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