GLUT 1 deficiency syndrome: SLC2A1 sequencing

Diagnostic Use

GLUT-1 deficiency syndrome is a metabolic disorder characterised by mutations in the SLC2A1 gene. This gene produces a protein called glucose transporter protein type 1 (GLUT1), which transports glucose into cells. In the brain, GLUT1 moves glucose – the brains main energy source – across the blood-brain barrier. Mutations in SLC2A1 reduce or eliminate the function of the GLUT1 protein. This reduces the amount of glucose available to cells in the brain, and therefore affects brain development and function.

GLUT-1 deficiency syndrome affects the nervous system, and can have a variety of signs and symptoms. 90% of individuals have GLUT-1 deficiency syndrome, characterised by frequent seizures beginning early in life. Newborns may have involuntary and rapid eye movements. Babies may have normal sized heads at birth but growth of the brain and skull is slow, resulting in microcephaly. Developmental delay and intellectual disability can therefore occur. Spasticity, ataxia, dysarthria, lethargy, headaches, and myoclonus have also been observed. 10% of patients have a non-epileptic form of the syndrome.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Synonyms

glucose transporter protein
GLUT-1
GLUT1 deficiency syndrome

Turnaround Time

4 weeks

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

Test Method

Exons 1-10 of the SLC2A1 gene are amplified using PCR and analysed by bidirectional fluorescent DNA Sequencing. This method should detect all small mutations in the exons of SLC2A1, as well as defects in the intronic areas immediately bordering these exons that may affect splicing. Large inversions, insertions, and deletions will not be detected, nor will promoter region mutations.

Non-Funded Test Cost

$600.00 (Exclusive of GST)

Uncertainty of Measurement:
Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%. This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.

Contact Information

Enquiry Form