Mandibulofacial dysostosis with microcephaly

Mandibulofacial dysostosis with microcephaly (MFDM) is characterised by microcephaly, moderate to severe learning disability, external ear malformations, deafness, cleft palate, choanal and aural atresia, congenital heart malformation, renal malformations and oesophageal atresia. Patients have facial dysmorphism including mid-face hypoplasia, micrognathia and characteristic external ear malformation with small, simple, protuberant ears. Patients with Mandibulofacial dysostosis with microcephaly smaller than -3 S.D should be considered for testing.

MFDM is caused by variants in the EFTUD2 gene (Lines et al 2012 AJHG 90, 369-377). MFDM is inherited in an autosomal dominant manner but most variants that have been reported to date have arisen de novo. Gordon et al identified loss of function mutations or deletions of the EFTUD2 gene in 11/14 (79%) patients who met diagnostic criteria for MFDM (Gordon et al 2012 J Med Genet 49, 737-746).

EFTUD2 gene analysis.

Visit the NHS Genomic Test Directory 

Eligibility criteria for genomic tests can be found in the National Genomic Test Directory.

This lists the clinical specialties that would be expected to request for a given clinical indication and sets out which patients should be considered for testing.

All samples for genomic testing should be accompanied by a fully completed request form.

The request form should include as much clinical information about the patient or family member, family relationships and the requested test code (R number). All request forms must indicate either a specific disorder/gene(s) to be investigated or, a request to extract and store DNA.

This form should be used for the majority of test requests.

Please do not download and store this on your desktop or system. The form is regularly updated. Our recommendation is to save or bookmark a link to our website to ensure you are working with the most up-do-date version.

Download the latest version here: GMS Test Order Form v2.3

An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place before testing is requested.

It is the referring clinician’s responsibility to ensure that the patient/carer knows the purpose of the test and that the sample may be stored for future diagnostic testing. In submitting a sample with a request form, the clinician confirms that informed consent has been obtained for (a) testing and storage (indefinitely) (b) the use of this sample and the information generated from it to be shared with members of the donor’s family and their health professionals (if appropriate). The patient should be advised that the samples may be used anonymously for quality assurance and training purposes.

If stated as a requirement for a specific test, a record of this discussion must be retained within the patient record when a genomic test is ordered.

For more information please view the Consent and Confidentiality in Genomic Medicine guidelines from the Joint Committee on Medical Genetics.

Before sending samples for genomic testing, please ensure you follow the correct preparation and transport guidelines. This includes information on sample types, volumes, handling, labelling, and packaging standards.

For a full list of sample requirements and transport guidance, please visit the samples and transport page of the website. 

Turnaround times (TATs) for genomic tests are continually refined through ongoing reviews of testing standards.

Results will be returned to the email account or clinician listed on the request form.

Visit the results and turnaround page for more information.