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Test Code SLC2A1 Pnl SLC2A1 Sequencing and Del/Dup

Additional Codes

SLC2A1 Sequencing and Del/Dup

Clinical System Name

SLC2A1 Sequencing and Del/Dup

Synonyms

GLUT1 Sequencing and Del/Dup

Dystonia 9

Description

The SLC2A1 gene provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). The GLUT1 protein is embedded in the outer membrane surrounding cells, where it transports a simple sugar called glucose into the cells for use as fuel. In the brain, the GLUT1 protein is involved in moving glucose, which is the brain's main energy source, across the blood-brain barrier. The blood-brain barrier acts as a boundary between tiny blood vessels (capillaries) and the surrounding brain tissue; it protects the brain's delicate nerve tissue by preventing many other types of molecules from entering the brain. The GLUT1 protein also moves glucose between cells in the brain called glia, which protect and maintain nerve cells (neurons).

More than 150 SLC2A1 gene pathogenic mutations have been reported in people with GLUT1 deficiency syndrome. This disorder leads to a variety of neurological symptoms that can include developmental delay, intellectual disability, movement problems, and seizures (epilepsy). The mutations that cause GLUT1 deficiency syndrome reduce or eliminate the function of the GLUT1 protein. Having less functional GLUT1 protein reduces the amount of glucose available to brain cells, which affects brain development and function. A diagnosis of GLUT1 deficiency syndrome would allow initiation of treatment with a ketogenic diet that has shown clinical benefit in affected patients.

Dystonia-9, in the dystonia class of disorders which is caused by a mutation in SLC2A1, is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia.  

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 2-5 mL

Minimum Vol: 2 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 1 microgram

Minimum Vol: 600 nanograms

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: RT

Storage location: Affix large Cerner labels to tubes and place in room temp send-outs rack.

 

Off-site collection: Send whole blood room temperature.

Stability

 

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 5 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 2-4 w

 

Performing Laboratory

Medical Neurogenetics

Department

Department:  Medical Neurogenetics, 5424 Glenridge Dr, Atlanta, GA 30342

Phone Number: (678) 225-0222 ext 201

Reference Range

Interpretive report is provided.

Methodology

Method: Polymerase Chain Reaction (PCR) followed by DNA sequencing analysis; Multiplex Ligation-dependent Probe Amplification (MLPA) analysis

Special Instructions

Links to:

Medical Neurogenetics

 

Clinical Utility

GeneReviews

Send Out Instructions

Reference Test Name: SLC2A1 Full Gene Sequencing + MLPA Deletion/Duplication Analysis
Reference Test Number: MOL231
Instructions: Do not refrigerate. Ship overnight via FedEx. Keep a copy of the requisition for our records.