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Ataxia Telangiectasia del/dup byMLPA(MG) Near Me in Panchkula
₹11440 ₹11440
Report Time
4 weeks
No Fasting Required
FREE
Home Sample Collection
Age Group
Parameters Included
Recomended for
Both
Call: 9240299624 Ataxia Telangiectasia del/dup byMLPA(MG) Near Me in Panchkula
Fasting
No Fasting Required
Report Time
4 weeks
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₹11440
₹11440
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Understanding the Test
Test Measures
City Price Info
Understanding the Ataxia Telangiectasia del/dup byMLPA(MG)
The Ataxia Telangiectasia del/dup by MLPA (MG) Test is an advanced genetic test designed to identify large deletions and duplications in the ATM gene, which are associated with Ataxia Telangiectasia (A-T) and certain hereditary cancer syndromes. By analyzing copy number variations that may not be detected through routine gene sequencing, this test provides valuable insights for accurate diagnosis, carrier screening, risk assessment, and genetic counselling. It plays an important role in evaluating individuals with suspected ATM-related disorders and families with a history of inherited cancer risk.
Ataxia Telangiectasia del/dup byMLPA(MG) Measures
The Ataxia Telangiectasia del/dup by MLPA (MG) test measures copy number variations (CNVs), including deletions and duplications, within the ATM(AtaxiaTelangiectasiaMutated) gene. Using Multiplex Ligation-dependent Probe Amplification (MLPA) with an MG-series probemix, the test evaluates all 66 exons of the ATM gene to identify missing or extra genetic material that may affect normal gene function. It assesses exon-level deletions and duplications, compares DNA copy number ratios to reference samples for quantitative analysis, and covers known breakpoint regions prone to genetic alterations. These measurements help detect genetic changes associated with Ataxia-Telangiectasia and hereditary cancer predisposition syndromes linked to ATM gene abnormalities.
Ataxia Telangiectasia del/dup byMLPA(MG) Price For Other Cities
What is the Ataxia Telangiectasia del/dup by MLPA (MG) Test?
The Ataxia Telangiectasia del/dup by MLPA (MG) test is a specialized molecular genetic test used to detect large deletions and duplications (copy number variations) in the ATM gene on chromosome 11q22-23. It uses MLPA technology with a validated MRC-Holland probemix kit (MG series) to identify exon-level copy number changes.
This test is vital for diagnosing Ataxia Telangiectasia (A-T) and identifying carriers who may not show classic symptoms but have a significant hereditary cancer risk.
Why is this Test Done?
- To diagnose Ataxia Telangiectasia, when sequencing does not identify two causative point mutations in the ATM gene
- To differentiate large structural variants of ATM from point mutations, missense variants, and smaller changes
- To guide genetic counselling, carrier detection, and clinical management decisions
- To assess hereditary breast, ovarian, and pancreatic cancer risk in individuals with ATM variants
Conditions Identified by the Ataxia Telangiectasia del/dup by MLPA (MG) Test near me in Panchkula
-
Ataxia Telangiectasia (A-T)
A rare inherited disorder caused by mutations in the ATM gene. It leads to early-onset coordination problems, eye and skin telangiectasias, immune deficiency, and increased cancer risk. MLPA detects gene deletions or duplications.
-
ATM Carrier Status
Individuals with a single altered ATM gene are generally neurologically unaffected but have an elevated lifetime risk of breast cancer, pancreatic cancer, and other ATM-associated malignancies. MLPA accurately identifies these variants for family screening.
-
Immunodeficiency due to ATM Mutations
ATM mutations can impair DNA repair and immune cell development, leading to recurrent infections, reduced immunoglobulin levels, and lymphopenia. MLPA confirms the genetic basis of immunodeficiency.
-
Hereditary Cancer Risk
Pathogenic ATM variants are associated with hereditary cancer syndromes, including breast and pancreatic cancers. Detecting these variants supports early surveillance, preventive care, and informed decisions for families.
Who Should Take the Ataxia Telangiectasia del/dup by MLPA (MG) Test?
- Children or adults with progressive cerebellar ataxia, oculomotor apraxia, or telangiectasias
- Patients with incomplete ATM sequencing results
- Individuals with elevated AFP and unexplained neurological decline
- First-degree relatives of confirmed A-T patients
- Individuals with personal or family history of ATM-related cancers
Ataxia Telangiectasia del/dup by MLPA (MG) Test Details
|
Parameter |
Details |
|
Test Name |
Ataxia Telangiectasia del/dup by MLPA (MG) |
|
Also Known As |
ATM Gene Deletion/Duplication Analysis by MLPA; ATM MLPA (MG Kit) |
|
Sample Type |
Blood (EDTA) |
|
Gender |
Both |
|
Age Group |
All |
|
Fasting Required |
No |
|
Report Time |
10–15 Working Days |
|
Home Collection |
Available |
Symptoms That May Indicate the Need for Ataxia Telangiectasia del/dup by MLPA (MG) Test
- Progressive unsteady gait or balance issues in early childhood
- Oculomotor apraxia or difficulty controlling eye movements
- Visible telangiectasias on the eyes or skin
- Recurrent respiratory or sinus infections
- Elevated alpha-fetoprotein (AFP) levels
- Slurred speech, swallowing difficulty, or neurological decline
- Family history of A-T or ATM-related cancers
How the Ataxia Telangiectasia del/dup by MLPA (MG) Test Works in Panchkula (At-Home Process)
-
Book Appointment
Schedule your home visit via website, app, or helpline at your convenience.
-
Sample Collection at Home
A certified phlebotomist collects a blood sample using a sterile EDTA Vacutainer quickly and hygienically.
-
Lab Processing
The sample is transported under controlled conditions to NABL-accredited labs, where trained molecular geneticists perform DNA extraction and MLPA analysis.
-
Digital Report Delivery
A comprehensive report with interpretation is delivered within 10–15 working days via email, WhatsApp, and the MAX@Home app. Genetic counselling support is available.
How to Prepare for This Test
- No fasting required before sample collection
- Inform your doctor about ongoing medications (especially immunosuppressants)
- Mention any recent bone marrow transplant
- Morning collection preferred, but any time is acceptable
- Keep previous genetic reports and medical records handy for reference
Factors That Can Affect Test Results
- Recent blood transfusion or bone marrow transplant
- Poor sample quality or degraded DNA
- Low-level mosaicism
- Probe binding site polymorphisms
- Active haematological or medical conditions
Understanding Test Results
Normal Results
No deletions or duplications detected across ATM exons. Further sequencing may be needed if suspicion remains.
Abnormal Results
Heterozygous variants indicate carrier status and cancer risk. Homozygous or compound variants support A-T diagnosis.
Report Turnaround Time
Reports are available within 4 weeks of sample receipt at the laboratory.
Delivered via
MAX@Home App
Why Choose MAX@Home for Ataxia Telangiectasia del/dup by MLPA (MG) in Panchkula?
-
Certified Phlebotomists
Our trained, background-verified phlebotomists follow strict aseptic protocols for blood collection, ensuring sample integrity for accurate molecular genetic analysis.
-
NABL-Accredited Labs
All MLPA analyses are performed in NABL-accredited molecular genetics laboratories using validated MRC-Holland MG-series probemix kits, ensuring results that meet the highest national quality standards.
-
Accurate & Reliable Results
Our molecular geneticists use industry-standard Coffalyser software for MLPA data analysis, with stringent internal quality controls and result verification processes before every report is issued.
-
Convenient Home Testing
From booking to report delivery, our entire process is designed for your comfort. No hospital queues, no parking hassles, just professional doorstep service across Panchkula and NCR.
-
Trusted Healthcare Provider
MAX@Home is backed by the trusted MAX Healthcare network, with years of experience in diagnostic excellence and patient-centric care, making us the preferred choice for rare disease genetic testing in Panchkula.
Book Your Ataxia Telangiectasia del/dup by MLPA (MG) Test Today in Panchkula
Early detection of ATM gene alterations plays a crucial role in accurate diagnosis, timely intervention, cancer risk assessment, and long-term care planning for you and your family.
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