Fabry Disease (GLA) Gene Analysis Test: Booking, Price, and Results
About Fabry Disease (GLA) Gene Analysis Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | GLA gene sequencing, alpha-galactosidase A gene test, Fabry disease genetic test, GLA mutation analysis |
| Sample Type | Whole blood (EDTA tube, lavender-top tube) |
| Fasting Required | No fasting required |
| Report Time | 15 days |
| Recommended For | Males and females of all ages with suspected Fabry disease or a family history of the condition |
| Price | Starting at ₹2,200 |
What is a Fabry Disease (GLA) Gene Analysis Test?
The Fabry disease (GLA) gene analysis test is a molecular genetic test that reads the DNA sequence of the GLA gene to identify changes (variants or mutations) that cause Fabry disease. Fabry disease is a rare inherited condition in which the body cannot produce enough of an enzyme called alpha-galactosidase A, leading to a build-up of fatty substances in blood vessels and organs. A doctor may order this GLA test when a patient has symptoms suggesting Fabry disease, or when a family member has already been diagnosed.
What Does a Fabry Disease (GLA) Gene Analysis Test Measure?
This is a qualitative genetic test, meaning it does not produce a numerical value. Instead, it analyses the GLA gene to detect changes in its DNA sequence. The table below explains what the test looks for.
| Component | What It Tells Us |
|---|---|
| GLA gene sequence | Reads the full coding sequence of the GLA gene, which carries the instructions for making the alpha-galactosidase A enzyme |
| Missense and nonsense variants | Single-letter changes in the DNA code that alter or stop enzyme production |
| Splice-site variants | Changes at the junctions of gene segments that disrupt how the gene is read |
| Small insertions and deletions | Short stretches of DNA that have been added or removed, disrupting gene function |
| Partial gene rearrangements | Larger structural changes within the gene |
| Variant classification | Each change found is classified as pathogenic, likely pathogenic, or of uncertain significance |
Why is a Fabry Disease (GLA) Gene Analysis Test Done?
A doctor may order this test for several reasons, from confirming a suspected diagnosis to identifying carrier status in family members.
Common Symptoms That May Require This Test
The following symptoms may lead a doctor to request a Fabry disease genetic test:
- Burning pain or a pins-and-needles sensation in the hands and feet (known as acroparesthesias)
- Small, dark-red skin spots, usually on the lower body (angiokeratomas)
- Reduced or absent sweating (hypohidrosis)
- Cloudy vision caused by deposits on the surface of the eye (corneal opacities)
- Ongoing gastrointestinal problems such as nausea, bloating, or abdominal pain
- Hearing loss or persistent ringing in the ears (tinnitus)
- Unexplained kidney problems, including protein detected in urine
Conditions This Test Can Help Detect
This test is used to identify or confirm the following conditions:
- Classic Fabry disease in males, typically presenting in childhood or adolescence with pain crises, skin lesions, and kidney involvement
- Variant (atypical) forms of Fabry disease, including the renal variant (primarily affecting the kidneys) and the cardiac variant (affecting the heart)
- Fabry disease in females, who may range from having no symptoms to experiencing the full disease presentation
- Carrier status in at-risk female relatives of a diagnosed individual
How to Prepare and What to Expect
No special preparation is needed for this test. The following information will help you feel confident on the day of your appointment.
Do You Need to Fast?
No, fasting is not required for the GLA test. You may eat and drink normally before your appointment.
Practical Tips Before Your Test
Here are a few things to do before attending your appointment:
- Bring a detailed clinical history report, including your symptoms, previous test results, and family history, as this is required for the test
- Tell your doctor if you have had a recent blood transfusion, as donor DNA in your blood may interfere with the result
- Share your full family history with the ordering doctor, as it helps in interpreting findings accurately
- Ask your doctor whether an enzyme activity (alpha-galactosidase A) test should be done alongside or before this test
- Consider genetic counselling before and after the test to help you understand the results and their implications
Step-by-Step Procedure
The blood sample for this test is collected in a standard venepuncture (blood draw). Here is what to expect:
- A trained phlebotomist (blood collection specialist) will clean the inside of your elbow with an antiseptic swab.
- A tourniquet (an elastic band) is tied around your upper arm to make the vein easier to see.
- A small needle is gently inserted into the vein, and approximately 2 ml of blood is collected into an EDTA (lavender-top) tube.
- The needle is removed, and a small cotton pad or bandage is applied to the site.
- The labelled sample is stored at 2 to 8 degrees Celsius and dispatched to a specialised molecular genetics laboratory.
- In the laboratory, DNA is extracted from your blood and the GLA gene is sequenced using Sanger sequencing technology to identify any variants.
Factors That Can Affect Accuracy
Several factors may influence the reliability of your result:
- A recent blood transfusion or bone marrow transplant, as donor DNA can be present in the blood
- Insufficient DNA quantity or quality in the collected sample
- Improper sample storage or handling before it reaches the laboratory
- The specific sequencing method used, as some methods may not detect large gene deletions
Understanding Your Fabry Disease (GLA) Gene Analysis Test Results
Results from this test are not reported as numbers. They are interpreted by a specialist or genetic counsellor based on the DNA findings. The table below describes the possible outcome categories.
| Result Category | What It Means |
|---|---|
| Pathogenic variant detected | A disease-causing change was identified in the GLA gene, confirming a diagnosis or carrier status |
| Likely pathogenic variant detected | A change very likely to cause disease was found; strongly supports a diagnosis |
| Variant of uncertain significance (VUS) | A change was found, but current evidence is insufficient to confirm whether it causes disease |
| No pathogenic variant detected | No disease-causing change was identified in the GLA gene |
Nearly 98% of males with a clinical diagnosis of Fabry disease have an identifiable GLA mutation. More than 900 variants in the GLA gene have been documented to date.
Disclaimer: These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.
How to Maintain Healthy Levels
Because this is a genetic test, the result itself does not change. However, if you receive a positive result, the following general wellness tips are relevant:
- Avoid smoking, as it can worsen the blood vessel damage associated with Fabry disease
- Stay well hydrated and avoid extreme heat, since people with Fabry disease may have difficulty regulating body temperature through sweating
- Attend regular specialist follow-up appointments to monitor kidney, heart, and neurological health
Lupin Diagnostics Fabry Disease (GLA) Gene Analysis Test Price and Home Collection
The Fabry disease (GLA) gene analysis test is available at Lupin Diagnostics starting at ₹2,200, with home sample collection offered for your convenience.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 2200 |
| CHENNAI | 2200 |
| HYDERABAD | 2200 |
| KOLKATA | 2200 |
| NAVI MUMBAI | 2200 |
| PUNE | 2200 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Here is how to get your GLA test online booking:
- Select the Fabry Disease (GLA) Gene Analysis Test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
The GLA test home collection service is available across cities, allowing a certified phlebotomist to visit your home at a convenient time. All samples are processed in NABL-accredited laboratories by experienced specialists. Your digital report is delivered securely via email or WhatsApp once ready.
Frequently Asked Questions
The Fabry disease (GLA) gene analysis test examines the DNA sequence of the GLA gene to find mutations that cause Fabry disease. Fabry disease is a rare inherited condition in which a key enzyme (alpha-galactosidase A) is absent or insufficient, causing fatty substances to accumulate in blood vessels and organs. The test is performed using a small blood sample and analysed by Sanger sequencing.
This test is appropriate for individuals who show clinical signs of Fabry disease, have a suspected diagnosis, or have a family member who has been diagnosed with the condition. It is particularly important for females, as enzyme activity tests alone can miss a significant number of affected women. A doctor or genetic counsellor can advise whether this test is right for you.
The enzyme assay measures how much alpha-GAL A enzyme activity is present in the blood. The GLA gene analysis test identifies the exact DNA change responsible for the condition. Females can have near-normal enzyme levels even when they carry a disease-causing mutation, so the genetic test is often essential for an accurate diagnosis in women.
No fasting or special preparation is needed. A small blood sample of approximately 2 ml is collected in an EDTA tube. Inform your doctor if you have had a recent blood transfusion, and bring a detailed clinical history to your appointment, as it is required for the test.
Results are typically available within 15 days. The test involves DNA extraction, detailed sequencing of the GLA gene, and expert analysis of any variants found, which takes time to complete accurately.
A VUS means a genetic change was identified in the GLA gene, but current scientific evidence is not yet sufficient to confirm whether it causes disease or is harmless. Your doctor may recommend additional testing, family member testing, or closer monitoring over time.
Prenatal testing for Fabry disease is possible, but only when a specific disease-causing variant has already been identified in the family. It is not used as a routine prenatal screening test. A genetic counsellor can advise on whether prenatal testing is appropriate for your situation.
Fabry Disease (GLA) Gene Analysis Test: Booking, Price, and Results
