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Test Code GLUT1 UM SLC2A1 Sequencing

Clinical System Name

GLUT1 Sequencing Analysis

Description

The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1-DS) is now known to be a continuum that includes the classic phenotype as well as dystonia 9, dystonia 18, atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings such as intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. The diagnosis is established in neurologically affected individuals who have a low-normal or low CSF lactate concentration, normal blood glucose concentration, and low CSF glucose concentration (<60 mg/dL in all cases reported to date; <40 mg/dL in >90%; 41-52 mg/dL in ~10%). Detection of a heterozygous disease-causing mutation (or rarely, biallelic mutations) in SLC2A1 confirms the diagnosis.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 8-10 mL

Minimum Vol: 3 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 1 microgram

Minimum Vol: 900 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 4 - 6 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: Capillary DNA Sequencing

Analytical Volume:

Limitations:

Special Instructions

Links to:

Medical Neurogenetics

 

Send Out Instructions

Reference Test Name: SLC2A1 Full Gene Sequencing Analysis
Reference Test Number: MOL121
Instructions: Do not refrigerate. Ship overnight via FedEx. Keep a copy of the requisition for our records.