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.
How to order genomic testing for neonatal diabetes mellitus and congenital hypothyroidism
This page provides information for healthcare professionals on how to request non-NHS genomic testing for neonatal diabetes mellitus and congenital hypothyroidism. For NHS tests, please visit the relevant pages here.
Step by step instructions
About neonatal diabetes mellitus and congenital hypothyroidism
Neonatal diabetes mellitus and congenital hypothyroidism (OMIM: 610192) (also known as NDH syndrome) is an autosomal recessive disorder characterised by early onset diabetes mellitus requiring insulin treatment and congenital hypothyroidism. Facial anomalies, congenital glaucoma, hepatic fibrosis, polycystic kidneys and mental retardation are additional reported features. The syndrome results from disease-causing variants in the transcription factor GLIS3 (Senee et al. 2006 Nature Genet. 38: 682-687).
Test code and gene information
GLIS3 gene analysis in neonatal diabetes mellitus and congenital hypothyroidism (NDH syndrome).
Eligibility
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.
Test order form
Please follow the link below to the relevant diabetesgenes website page for Neonatal Diabetes information and forms:
Consent
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.
Samples and transport
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.
Results and turnaround times
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.
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.