Ataxia-telangiectasia (ATM) Gene Analysis Test
Ataxia-telangiectasia (ATM) gene analysis Price
Brief Details
What is the Ataxia-telangiectasia (ATM) Gene Analysis Test?
The Ataxia-telangiectasia (ATM) Gene Analysis Test is a genetic blood test used to diagnose ataxia-telangiectasia, a rare inherited condition that affects the nervous system, immune system, and increases cancer risk.
The disorder is caused by mutations in the ATM gene, which plays a critical role in DNA repair and cell cycle control. This test uses next generation sequencing technology to detect disease causing genetic changes, helping confirm diagnosis, guide clinical management, and support long term care planning. The test requires a blood sample collected in an EDTA tube.
What Does the Ataxia-telangiectasia (ATM) Gene Analysis Test Measure?
This genetic test looks for disease causing changes in the ATM gene:
- Detects pathogenic variants responsible for ataxia-telangiectasia
- Helps confirm the diagnosis of hereditary ataxia
- Supports early diagnosis in children with neurological and immune symptoms
- Aids genetic counselling and carrier screening
- Assists clinicians in prognosis assessment and surveillance planning
Ataxia-telangiectasia (ATM) Gene Analysis Test: Who Needs It and Why It’s Done
What Symptoms May Call for an Ataxia-telangiectasia (ATM) Gene Analysis Test?
Doctors may recommend this test if an individual shows:
- Progressive loss of balance and coordination
- Frequent infections due to immune deficiency
- Abnormal eye movements or speech difficulties
- Telangiectasia on the eyes or skin
- Delayed motor development in childhood
Who Should Get an Ataxia-telangiectasia (ATM) Gene Analysis Test?
This test may be advised for:
- Children with early onset progressive ataxia
- Individuals with neurological symptoms and recurrent infections
- Patients with clinical features suggestive of ataxia-telangiectasia
- Families with a known history of the condition
- Individuals requiring genetic confirmation for long term management
Why is the Ataxia-telangiectasia (ATM) Gene Analysis Test Done?
The test helps confirm the genetic cause of ataxia-telangiectasia, enabling accurate diagnosis, appropriate surveillance for complications, and informed genetic counselling for families.
Ataxia-telangiectasia (ATM) Gene Analysis Test Booking & Reports – Metropolis Healthcare
How to Book the Ataxia-telangiectasia (ATM) Gene Analysis Test and Get Your Reports?
- Simple Online Booking
Booking can be done through the Metropolis Healthcare App or website. Select the Ataxia-telangiectasia (ATM) 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 Ataxia-telangiectasia (ATM) Gene Analysis Test Available Near You?
Yes, Metropolis Healthcare offers home sample collection for the Ataxia-telangiectasia (ATM) 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 Ataxia-telangiectasia (ATM) 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 Ataxia-telangiectasia (ATM) 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 Ataxia-telangiectasia (ATM) Gene Analysis Test Results
What Your Ataxia-telangiectasia (ATM) Gene Analysis Results May Indicate
| Parameter | Expected Finding | Pathogenic Variant Detected May Indicate | No Variant Detected May Indicate |
|---|---|---|---|
| ATM gene | No disease causing variant detected | Confirmed ataxia-telangiectasia | Symptoms may be due to other hereditary ataxias or variants not detected by this analysis |
Understanding Abnormal Ataxia-telangiectasia (ATM) Gene Analysis Results
| Finding | What It May Indicate |
|---|---|
| Pathogenic ATM variant | Ataxia-telangiectasia with neurological and immunological involvement |
| No pathogenic variant | Alternative genetic or acquired neurological disorder |
How Should You Prepare for an Ataxia-telangiectasia (ATM) 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
- Share clinical history: Provide relevant neurological, immune, and family history
- Consent and documentation: Ensure the test requisition form and clinical details are completed
How Is an Ataxia-telangiectasia (ATM) 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 ATM gene
Conditions That May Affect Ataxia-telangiectasia (ATM) Gene Analysis Test Accuracy
Certain patient related factors may influence test interpretation:
- Recent blood transfusion, which may affect genetic analysis
- Incomplete or inaccurate clinical or family history
- Presence of mosaic genetic changes requiring clinical correlation
Diseases That the Ataxia-telangiectasia (ATM) Gene Analysis Test Can Help Detect
- Ataxia-telangiectasia
- Hereditary ataxias
- Genetic immunodeficiency disorders
References
- Boder E., Sedgwick R.P. (1958). Ataxia-telangiectasia: A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics, 21(4), 526–554. PMID: 13547804
- Lavin M.F. (2008). Ataxia-telangiectasia: From a rare disorder to a paradigm for cell signalling and cancer. Nature Reviews Molecular Cell Biology, 9(10), 759–769. PMID: 18813293
- Shiloh Y., Ziv Y. (2013). The ATM protein kinase: Regulating the cellular response to genotoxic stress. Nature Reviews Molecular Cell Biology, 14(4), 197–210. PMID: 23594953
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