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

For additional information please click on the link Download additional information >


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

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.

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