Tay-Sachs Disease (HEXA) Gene Analysis Test
Tay-Sachs disease (HEXA) gene analysis Price
Brief Details
What is the Tay-Sachs Disease (HEXA) Gene Analysis Test?
The Tay-Sachs Disease (HEXA) Gene Analysis Test is a genetic blood test used to diagnose Tay-Sachs disease, a rare inherited neurological disorder that primarily affects infants and young children. The condition leads to progressive damage of nerve cells in the brain and spinal cord.
This test analyses the HEXA gene using next generation sequencing technology to identify disease causing genetic changes. Confirming the genetic diagnosis helps explain symptoms, supports prognosis assessment, and enables accurate genetic counselling for families. The test requires a blood sample collected in an EDTA tube.
What Does the Tay-Sachs Disease (HEXA) Gene Analysis Test Measure?
This genetic test looks for disease causing changes in the HEXA gene:
- Detects pathogenic variants responsible for Tay-Sachs disease
- Helps confirm the cause of progressive neurodegeneration
- Supports early diagnosis in infants with developmental regression
- Aids carrier detection and family screening
- Guides prognosis and long-term supportive care planning
Tay-Sachs Disease (HEXA) Gene Analysis Test: Who Needs It and Why It’s Done
What Symptoms May Call for a Tay-Sachs Disease (HEXA) Gene Analysis Test?
Doctors may recommend this test if an infant or child shows features suggestive of Tay-Sachs disease, such as:
- Loss of previously acquired motor skills
- Poor muscle tone followed by stiffness
- Seizures or exaggerated startle response
- Vision problems or loss of eye contact
- Progressive developmental delay
Who Should Get a Tay-Sachs Disease (HEXA) Gene Analysis Test?
This test may be advised for:
- Infants or children with suspected neurodegenerative disorders
- Individuals with a family history of Tay-Sachs disease
- Couples planning a pregnancy with known carrier status
- Families seeking confirmation after abnormal enzyme screening
- Individuals requiring genetic counselling and risk assessment
Why is the Tay-Sachs Disease (HEXA) Gene Analysis Test Done?
The test helps confirm a definitive genetic diagnosis of Tay-Sachs disease, allowing appropriate medical planning, supportive care, and informed family counselling.
Tay-Sachs Disease (HEXA) Gene Analysis Test Booking & Reports – Metropolis Healthcare
How to Book the Tay-Sachs Disease (HEXA) Gene Analysis Test and Get Your Reports?
- Simple Online Booking
Booking can be done through the Metropolis Healthcare App or website. Select the Tay-Sachs Disease (HEXA) Gene Analysis 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 Tay-Sachs Disease (HEXA) Gene Analysis Test Available Near You?
Yes, Metropolis Healthcare offers home sample collection for the Tay-Sachs Disease (HEXA) Gene Analysis 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 Tay-Sachs Disease (HEXA) Gene Analysis 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 Tay-Sachs Disease (HEXA) Gene Analysis 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 Tay-Sachs Disease (HEXA) Gene Analysis Test Results
What Your Tay-Sachs Disease (HEXA) Gene Analysis Results May Indicate
| Parameter | Expected Finding | Pathogenic Variant Detected May Indicate | No Variant Detected May Indicate |
|---|---|---|---|
| HEXA gene | No disease causing variant detected | Confirmed genetic Tay-Sachs disease or carrier status | Symptoms may be due to other neurological conditions or variants not detected by this analysis |
Understanding Abnormal Tay-Sachs Disease (HEXA) Gene Analysis Results
| Finding | What It May Indicate |
|---|---|
| Pathogenic HEXA variant | Tay-Sachs disease or carrier state depending on zygosity |
| No pathogenic variant | Alternative neurological or metabolic condition may need evaluation |
How Should You Prepare for a Tay-Sachs Disease (HEXA) Gene Analysis 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 Tay-Sachs Disease (HEXA) Gene Analysis 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 HEXA gene
Conditions That May Affect Tay-Sachs Disease (HEXA) Gene Analysis 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 rare or mosaic genetic changes requiring clinical correlation
Diseases That the Tay-Sachs Disease (HEXA) Gene Analysis Test Can Help Detect
- Tay-Sachs disease
- HEXA related lysosomal storage disorders
- Inherited neurodegenerative conditions
References
- Gravel R.A., Kaback M.M., Proia R.L., et al. (2001). The GM2 gangliosidoses. The Metabolic and Molecular Bases of Inherited Disease, 8, 3827–3876. PMID: 11285028
- Maegawa G.H.B., Stockley T., Tropak M., et al. (2006). The natural history of juvenile or subacute GM2 gangliosidosis. Journal of Pediatrics, 149(6), 781–786. PMID: 17137890
- Bley A.E., Giannikopoulos O.A., Hayden D., et al. (2011). Natural history of infantile GM2 gangliosidosis. Pediatrics, 128(5), e1233–e1241. PMID: 22025592
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