Fanconi-Bickel syndrome (Glycogen storage disease type XI) is an autosomal recessive disorder of carbohydrate metabolism caused by disease-causing variants in SLC2A2. Fanconi-Bickel syndrome presents in early infancy and is characterised by the association of hepatomegaly, hypoglycaemia and severe hypophosphataemic rickets and marked growth retardation due to proximal renal tubular dysfunction.
How to order genomic testing for Fanconi-Bickel syndrome
This page provides information for healthcare professionals on how to request non-NHS genomic testing for Fanconi-Bickel syndrome. For NHS tests, please visit the relevant pages here.
Step by step instructions
About Fanconi-Bickel syndrome
Fanconi-Bickel syndrome (Glycogen storage disease type XI) is an autosomal recessive disorder of carbohydrate metabolism caused by disease-causing variants in SLC2A2. Fanconi-Bickel syndrome presents in early infancy and is characterised by the association of hepatomegaly, hypoglycaemia and severe hypophosphataemic rickets and marked growth retardation due to proximal renal tubular dysfunction.
Test code and gene information
SLC2A2 gene analysis in fanconi-bickel 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
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
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.