This page provides information about non-NHS funded tests offered by the South West Genomic Medicine Service. These tests are typically requested by healthcare providers from outside the NHS, including international clients, devolved UK nations, and private healthcare providers. If you were looking for information about NHS-funded tests instead, please go back to Request a test to view NHS Tests.
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.
Find out more
Maternally inherited diabetes and deafness
The mitochondrial variant m.3243A>G is associated with the MELAS syndrome and the MIDD syndrome.
Find out more
Maturity-Onset Diabetes of the Young or MODY
Maturity-Onset Diabetes of the Young or MODY affects 1-2% of people with diabetes, although it often goes unrecognised.
Find out more
Medullary thyroid carcinoma
Familial medullary thyroid cancer (FMTC) is characterised by the presence of medullary thyroid cancer (MTC) in the absence of phaeochromocytoma or parathyroid adenoma/hyperplasia
Find out more