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.
Neonatal diabetes
Neonatal diabetes is a clinically and genetically heterogeneous disease. To date there are over 20 different genetic causes of neonatal diabetes which identify different clinical subtypes of the disease).
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Neonatal diabetes mellitus & cerebellar agenesis
Pancreatic and cerebellar agenesis is found in a discrete subgroup of patients who have permanent neonatal diabetes as a result of pancreatic agenesis.
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Neonatal diabetes mellitus and congenital hypothyroidism (NDH Syndrome)
Neonatal diabetes mellitus and congenital hypothyroidism (also known as NDH syndrome) is an autosomal recessive disorder characterised by early onset diabetes mellitus requiring insulin treatment and congenital hypothyroidism.
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Nestor-Guillermo Progeria syndrome (NGPS)
Nestor-Guillermo Progeria syndrome (NGPS) is an atypical form of progeria characterised by severe osteolysis (of mandible, clavicles, ribs, distal phalanges and radii), short stature, scoliosis, micrognathia, propotosis, prominent subcutaneous venous patterning, generalised lipoatrophy and sparse to absent scalp hair from second decade of life.
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