Clinical Indication ID & Name
Neonatal diabetes
Test Group
Endocrinology
Specialties
Test code
R143.1
Test name
N/A
Target genes
ABCC8; KCNH11
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
All patients diagnosed with diabetes diagnosed less than 9 months of age
Marked hyperglycaemia is common in very preterm patients due to an immature pancreas. These individuals should be referred for genetic testing only if hyperglycaemia requiring insulin treatment is still present at 32 weeks equivalent gestational age.
Where possible, clinicians are asked to submit samples from the probands parents for the DNA to be stored (R346) to allow follow-up of variants
Test code
R143.3
Test name
N/A
Target genes
6q24
Test scope
n/a
Test method/ technology
Methylation testing
Optimal Family Structure
n/a
Eligibility Criteria
All patients diagnosed with diabetes diagnosed less than 9 months of age
Marked hyperglycaemia is common in very preterm patients due to an immature pancreas. These individuals should be referred for genetic testing only if hyperglycaemia requiring insulin treatment is still present at 32 weeks equivalent gestational age.
Where possible, clinicians are asked to submit samples from the probands parents for the DNA to be stored (R346) to allow follow-up of variants
Test code
R143.4
Test name
N/A
Target genes
Diabetes - neonatal onset (293)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
All patients diagnosed with diabetes diagnosed less than 9 months of age
Marked hyperglycaemia is common in very preterm patients due to an immature pancreas. These individuals should be referred for genetic testing only if hyperglycaemia requiring insulin treatment is still present at 32 weeks equivalent gestational age.
Where possible, clinicians are asked to submit samples from the probands parents for the DNA to be stored (R346) to allow follow-up of variants
Commissioning group
Specialised
Overlapping idications
n/a
Address for samples/request forms
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Form not available, please contact us to enquire.
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old Sample Storage and Volume Required: Perirpheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Blood should be stored at 4°C where possible. Send at room temperature by first class post or by courier. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.