GLUT1 Deficiency (SLC2A1) Gene Panel Test
GLUT1 deficiency (SLC2A1) Gene Panel Price
Brief Details
What is the GLUT1 Deficiency (SLC2A1) Gene Panel Test?
The GLUT1 Deficiency (SLC2A1) Gene Panel Test is a genetic blood test used to diagnose GLUT1 deficiency syndrome, a rare inherited metabolic disorder that affects the brain’s ability to use glucose efficiently. This condition results from impaired glucose transport across the blood brain barrier.
The test analyses the SLC2A1 gene using next generation sequencing technology to identify disease causing genetic changes. Confirming the diagnosis helps guide appropriate treatment, including dietary therapy, and supports long term disease management. The test requires a blood sample collected in an EDTA tube.
What Does the GLUT1 Deficiency (SLC2A1) Gene Panel Test Measure?
This genetic test looks for disease causing changes in the SLC2A1 gene:
- Detects pathogenic variants responsible for GLUT1 deficiency syndrome
- Helps confirm the cause of unexplained seizures or movement disorders
- Supports early diagnosis in infants and children with developmental delay
- Aids genetic counselling and family screening
- Guides treatment planning, including ketogenic diet therapy
GLUT1 Deficiency (SLC2A1) Gene Panel Test: Who Needs It and Why It’s Done
What Symptoms May Call for a GLUT1 Deficiency (SLC2A1) Gene Panel Test?
Doctors may recommend this test if you or your child experience:
- Seizures beginning in infancy or early childhood
- Developmental delay or learning difficulties
- Movement disorders such as ataxia or dystonia
- Episodes of weakness or confusion, especially during fasting
- Poor response to standard anti epileptic medicines
Who Should Get a GLUT1 Deficiency (SLC2A1) Gene Panel Test?
This test may be advised for:
- Infants or children with unexplained epilepsy or movement disorders
- Individuals with suspected metabolic encephalopathy
- Patients with low cerebrospinal fluid glucose levels
- People with a family history of GLUT1 deficiency syndrome
- Families seeking genetic counselling and risk assessment
Why is the GLUT1 Deficiency (SLC2A1) Gene Panel Test Done?
The test helps confirm the genetic cause of GLUT1 deficiency syndrome, allowing early initiation of appropriate therapy and preventing long term neurological complications.
GLUT1 Deficiency (SLC2A1) Gene Panel Test Booking & Reports – Metropolis Healthcare
How to Book the GLUT1 Deficiency (SLC2A1) Gene Panel Test and Get Your Reports?
- Simple Online Booking
Booking can be done through the Metropolis Healthcare App or website. Select the GLUT1 Deficiency (SLC2A1) Gene Panel Test, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection. - Safe Home Sample Collection
Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols. - Sample Tracking Updates
You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform. - Accurate Laboratory Testing
Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology. - Quick and Easy Reports
Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.
Is Home Sample Collection for GLUT1 Deficiency (SLC2A1) Gene Panel Test Available Near You?
Yes, Metropolis Healthcare offers home sample collection for the GLUT1 Deficiency (SLC2A1) Gene Panel Test. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.
In How Much Time Will I Get the GLUT1 Deficiency (SLC2A1) Gene Panel Test Report?
Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.
Where Can I See or Get GLUT1 Deficiency (SLC2A1) Gene Panel Test Results?
You can access your test reports through the Metropolis Healthcare website or mobile app using your login credentials. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.
Interpreting GLUT1 Deficiency (SLC2A1) Gene Panel Test Results
What Your GLUT1 Deficiency (SLC2A1) Gene Panel Results May Indicate
| Parameter | Expected Finding | Pathogenic Variant Detected May Indicate | No Variant Detected May Indicate |
|---|---|---|---|
| SLC2A1 gene | No disease causing variant detected | Confirmed genetic GLUT1 deficiency syndrome | Symptoms may be due to other metabolic or neurological conditions or variants not detected by this analysis |
Understanding Abnormal GLUT1 Deficiency (SLC2A1) Gene Panel Results
| Finding | What It May Indicate |
|---|---|
| Pathogenic SLC2A1 variant | GLUT1 deficiency syndrome with impaired brain glucose transport |
| No pathogenic variant | Alternative metabolic or neurological disorder may need evaluation |
How Should You Prepare for a GLUT1 Deficiency (SLC2A1) Gene Panel Test?
This genetic test requires minimal preparation from your side:
- No fasting required: You can eat and drink normally before sample collection
- Normal hydration: Maintain your usual fluid intake
- Medication disclosure: Inform your doctor about any medicines or supplements you are taking
- Share clinical history: Provide relevant medical and family history as advised
- Consent and documentation: Ensure the test requisition form and genetic history details are completed
How Is a GLUT1 Deficiency (SLC2A1) Gene Panel Test Done? (Step-by-Step Procedure)
The test is performed using a standard blood collection process:
- Preparation: A tourniquet is tied around your arm to make veins more visible
- Cleaning: The puncture site is cleaned with antiseptic
- Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer
- Completion: The needle is removed, and a bandage is applied
- Processing: The sample undergoes next generation sequencing to analyse the SLC2A1 gene
Conditions That May Affect GLUT1 Deficiency (SLC2A1) Gene Panel Test Accuracy
Certain patient related factors may influence test interpretation:
- Recent blood transfusion, which may affect genetic analysis
- Incomplete or inaccurate family history details
- Presence of mosaic genetic changes requiring clinical correlation
Diseases That the GLUT1 Deficiency (SLC2A1) Gene Panel Test Can Help Detect
- GLUT1 deficiency syndrome
- Genetic causes of epilepsy and movement disorders
- Inherited metabolic encephalopathies
References
- De Vivo D.C., Trifiletti R.R., Jacobson R.I., et al. (1991). Defective glucose transport across the blood brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. New England Journal of Medicine, 325(10), 703–709. PMID: 1713196
- Leen W.G., Klepper J., Verbeek M.M., et al. (2010). Glucose transporter 1 deficiency syndrome: the expanding clinical and genetic spectrum. Annals of Neurology, 68(5), 655–663. PMID: 21031582
- Klepper J., Akman C., Armeno M., et al. (2020). Glucose transporter type 1 deficiency syndrome: diagnosis and management. Epilepsia, 61(8), 1590–1605. PMID: 32542748
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