Postnatal microarray


Description

Genome-wide chromosomal microarray (CMA) detects pathogenic copy number variants (pCNV) in 15-20% of patients with developmental delay, intellectual disability or congenital abnormalities. CMA may also detect copy number variants of uncertain clinical significance which may require parental follow up testing to aid interpretation. CMA may also detect pCNVs which are not associated with the presenting phenotype (incidental findings).


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

2ml venous blood in plastic EDTA bottles (>1ml from neonates) and 2ml in plastic Lithium Heparin bottles.


Reference range

Not applicable


Turnaround time

28 days


Cost

Upon request


Call in advance?

Not required


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