Pulmonary Surfactant Metabolism Dysfunction/pulmonary fibrosis


Description

Pulmonary surfactant metabolism dysfunction / pulmonary fibrosis comprise a genetically heterogeneous group of disorders that result in severe respiratory insufficiency or failure in full-term neonates or infants.


Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.


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
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

40 days


Disease / group

SFTPB, SFTPC, ABCA3, CSF2RB, NKX2-1/TITF1, SFTPA2, TERC, TERT


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.

© 2011 Great Ormond Street Hospital for Children NHS Trust