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Alstrom syndrome (ALMS1) gene analysis
₹ 18500
Alstrom Syndrome (ALMS1) Gene Analysis Test
₹ 18500 ₹ 18500

Alstrom Syndrome (ALMS1) Gene Analysis Test

Sample Type 51+ booked in last 3 days
Precaution
Sample Type
Swab
Precaution
Fasting
Yes
Precaution
Report
Within 4 Weeks

Alstrom syndrome (ALMS1) gene analysis Price

₹ 18500

Brief Details

Preparation
No special preparation required
Also Known As
Alstrom syndrome (ALMS1) gene analysis
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To detect genetic mutations causing Alstrom syndrome, a rare multisystem inherited disorder

What is the Alstrom Syndrome (ALMS1) Gene Analysis Test?

The Alstrom Syndrome (ALMS1) Gene Analysis Test is a genetic blood test used to diagnose Alstrom syndrome, a rare inherited condition that affects multiple organs in the body. The disorder commonly impacts vision, hearing, heart function, metabolism, and growth.

This test analyses the ALMS1 gene using next generation sequencing technology to identify disease causing genetic changes. Confirming the diagnosis helps doctors plan long term monitoring, manage complications early, and provide accurate genetic counselling to affected families. The test requires a blood sample collected in an EDTA tube.

What Does the Alstrom Syndrome (ALMS1) Gene Analysis Test Measure?

This genetic test looks for disease causing changes in the ALMS1 gene:

  • Detects pathogenic variants responsible for Alstrom syndrome
  • Helps confirm the cause of unexplained multisystem symptoms
  • Supports early diagnosis in children and young adults
  • Aids genetic counselling and family screening
  • Guides long term management of metabolic and cardiac complications

Alstrom Syndrome (ALMS1) Gene Analysis Test: Who Needs It and Why It’s Done

What Symptoms May Call for an Alstrom Syndrome (ALMS1) Gene Analysis Test?

Doctors may recommend this test if you or your child experience:

  • Progressive vision loss starting in childhood
  • Hearing impairment developing over time
  • Childhood obesity or insulin resistance
  • Heart muscle disease, including cardiomyopathy
  • Delayed growth or pubertal development

Who Should Get an Alstrom Syndrome (ALMS1) Gene Analysis Test?

This test may be advised for:

  • Children with suspected multisystem genetic disorders
  • Individuals with retinal dystrophy and metabolic abnormalities
  • Patients with cardiomyopathy of unclear cause
  • Families with a known history of Alstrom syndrome
  • Individuals requiring confirmation for long term care planning

Why is the Alstrom Syndrome (ALMS1) Gene Analysis Test Done?

The test helps confirm the genetic diagnosis of Alstrom syndrome, allowing early surveillance for organ involvement and timely intervention to reduce complications.

Alstrom Syndrome (ALMS1) Gene Analysis Test Booking & Reports – Metropolis Healthcare

How to Book the Alstrom Syndrome (ALMS1) Gene Analysis Test and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Alstrom Syndrome (ALMS1) 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.
  2. Safe Home Sample Collection
    Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
  3. Sample Tracking Updates
    You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
  4. Accurate Laboratory Testing
    Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
  5. 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 Alstrom Syndrome (ALMS1) Gene Analysis Test Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Alstrom Syndrome (ALMS1) 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 Alstrom Syndrome (ALMS1) 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 Alstrom Syndrome (ALMS1) 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 Alstrom Syndrome (ALMS1) Gene Analysis Test Results

What Your Alstrom Syndrome (ALMS1) Gene Analysis Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
ALMS1 gene No disease causing variant detected Confirmed genetic Alstrom syndrome Symptoms may be due to other ciliopathies or variants not detected by this analysis

Understanding Abnormal Alstrom Syndrome (ALMS1) Gene Analysis Results

Finding What It May Indicate
Pathogenic ALMS1 variant Alstrom syndrome with multisystem involvement
No pathogenic variant Alternative genetic or metabolic disorder requiring evaluation

How Should You Prepare for an Alstrom Syndrome (ALMS1) 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 medical and family history as advised
  • Consent and documentation: Ensure the test requisition form and genetic history details are completed

How Is an Alstrom Syndrome (ALMS1) 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 ALMS1 gene

Conditions That May Affect Alstrom Syndrome (ALMS1) 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 information
  • Presence of mosaic genetic changes requiring clinical correlation

Diseases That the Alstrom Syndrome (ALMS1) Gene Analysis Test Can Help Detect

  • Alstrom syndrome
  • Genetic ciliopathies
  • Inherited multisystem metabolic disorders

References

  1. Marshall J.D., Beck S., Maffei P., et al. (2007). Alström syndrome. European Journal of Human Genetics, 15(12), 1193–1202. PMID: 17940554
  2. Hearn T. (2019). ALMS1 and Alström syndrome: a recessive form of ciliopathy. Journal of Molecular Medicine, 97(1), 1–17. PMID: 30406467
  3. Paisey R.B., Barrett T.G., Carey C.M., et al. (2015). Alström syndrome: insights into the pathogenesis of metabolic complications. Diabetes, 64(12), 4099–4109. PMID: 26384351

Frequently asked questions

Find quick answers to the most common questions about health tests, bookings, and reports.

Regular exercise, a balanced diet, avoiding smoking, maintaining a healthy weight, and managing stress all help reduce heart disease risk.

Common signs include irritability, trouble sleeping, headaches, difficulty concentrating, and muscle tension.

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Ratings & Reviews

We're satisfying our customers every day since 1980.

Morning given the samples in Ayanavaram branch got the report by 12.30pm it's fast and efficient delivery by mail and want to tell about the staff they are very professional and friendly definitely I will recommend my friends and family to metropolis labs

Prabhu Gopalakrishnan. 5

The Home Service was excellent. Medical Technician took samples at 7:00am and returned at 9:30 after breakfast to take further samples. The results were sent by email at 6pm. The whole experience was excellent, professional and well organised. Will certainly recommend the home service for convenience

Chris Bessell 5

Excellent service - I was able to request services late at night (9pm) and the technician was at my door at 7:30am the next morning. The services were highly affordable and convenient. I live in the US and the US could learn a lot from Metropolis!!!

Sharmila Vaishnav. 5

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Choose precision On time, every time!

Precision
  • 98% on time collections with a 60 minutes promise
  • Real-time tracking of phlebotomist arrival and report generation
  • Fully digital report delivery—view from mobile or desktop instantly
  • Continuous monitoring of turnaround times to ensure accuracy and speed
  • Dedicated support team to resolve any delays or queries quickly

Why Metropolis Healthcare?

Metropolis has been present for over 40 years in the market.

Metropolis has a team of 200 senior pathologists and over 2000 technicians delivering diagnostic solutions in the areas of routine, semi specialty and super specialty domains like Oncology, Neurology, Gynaecology, Nephrology and many more.

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About Us

Metropolis Healthcare is a leading diagnostic service provider in India. We are a team of dedicated professionals committed to ensuring you and your family receive the most accurate and timely healthcare solutions. We believe in making health care accessible, affordable and evidence-based. Our expert panel are equipped with the latest technology and manned by a certified team of over 4000+ technicians.

In diagnostic services, we have more than three decades of experience servicing diverse stakeholders health advantage packages for men, women and seniors, genetic fitness & corporation in over 650+ tests like Oncology, Neurology, Gynaecology, Haematology, and many more. Our diagnostic services are located in leading doctors and clinics and serve over 15+ cities in India.

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