Kabuki Syndrome


Description

Kabuki Syndrome is an autosomal dominant condition characterized by distinctive facial features, developmental delay, skeletal anomalies, dermatoglyphic abnormalities and post-natal growth retardation. Approximately 70% of cases are due to mutations in the MLL2 gene, with most due to new mutations.

Also known as

Kabuki Makeup Syndrome, KMS, Niikawa-Kuroki Syndrome


Request a test

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


Additional information

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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

10 days


Disease / group

MLL2


Cost

Upon request


Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis


Genetics

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

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