Disorders of sexual development/infertility


Cytogenetic testing can be requested if the patient has abnormal sexual development (e.g. delayed puberty), clinical features suggestive of a sex chromosome abnormality (e.g. Turner syndrome, Klinefelter syndrome), or is experiencing infertility.

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

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

1-2ml lithium heparin blood.

Reference range

Not applicable

Turnaround time

28 days


Upon request

Call in advance?

Not required


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

© 2011 Great Ormond Street Hospital for Children NHS Trust