Weaver syndrome

Synonyms: -
Material
Material:
EDTA blood
(2-5 ml)
Untersuchungsdauer
TAT:
3-6 weeks
Contact
Methode
Method:
S-SEQ, MLPA, NGS, CNV
Overview

Weaver syndrome (now more commonly referred to as EZH2-related overgrowth) is a rare autosomal dominant disorder characterized by prenatal and postnatal overgrowth, tall stature, macrocephaly, a distinctive facial appearance, and variable developmental delay or intellectual disability. Additional features may include advanced bone age, poor coordination, camptodactyly, and umbilical hernia.

For more information see .

Weaver syndrome
1 Gene(s)*
EZH2


Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

How to order a genetic test

Select the right test for your patients. Contact our team in case you do not have an active contract yet.
Collect the sample. Download and fill in the order and consent form or access our portal (available for sample sent to Germany).
Properly pack the sample and send it to Medicover Genetics.
The sample will be analysed in our accredited laboratories.
An actionable report will be available for you to access safely and securely.

Get in touch with us

Our team of experts is here to support you at every stage.

Please select the option that best describes you.
Please enter your first name.
Please enter your last name.
Providing your phone number is optional and helps us contact you more quickly if needed.
Please enter a valid email address
Please provide your country of residence. This information is required to route your request to the appropriate sales representative based on your location​.
Please enter your organisation / institution
Please do not enter sensitive health data or special categories of personal data here. If you need to share such information, please use a secure, separate communication channel, such as encrypted email, a protected patient portal or a confidential phone call.​

Your data will be used solely for processing your inquiry. For more information on how we handle your personal data and your rights, please refer to our .

Are you a patient?

Why Medicover Genetics

Leader in genetic testing with >25 years of experience in counselling and diagnostics

Comprehensive CE-IVD kit portfolio and seamless Technology Transfer solution for laboratories of any size

End-to-end clinical workflow from sample processing to sequencing analysis and reporting

CAP- accredited, GMP- and ISO9001, 15189 and 13485 certified

Certified laboratories