Home TestAaas Gene Sequence Analysis Allgrove Syndrome Test

AAAS Full Gene Sequence Analysis (Allogrove Syndrome) Test

About AAAS Full Gene Sequence Analysis (Allogrove Syndrome) Test

Field	Value
Also Known As	AAAS Gene Sequencing, Triple A Syndrome Gene Test, Aladin Gene Test, AAAS Single Gene Test
Sample Type	Chorionic Villus (CVS), Amniotic Fluid, Peripheral Blood (EDTA), or Cord Blood (EDTA)
Fasting Required	No
Report Time	20 days
Recommended For	All genders and ages; primarily individuals with suspected Allgrove syndrome symptoms or a relevant family history
Price	Starting at ₹24,000

What is an AAAS Full Gene Sequence Analysis (Allogrove Syndrome) Test?

The AAAS full gene sequence analysis test examines the AAAS gene for mutations that cause Allgrove syndrome, also called Triple A syndrome. This is a rare inherited condition affecting the adrenal glands, digestive tract, eyes, and nervous system. A doctor typically orders this test when a patient shows a combination of symptoms pointing to this syndrome, or when there is a known family history of the condition. Depending on clinical circumstances, the sample may be collected from peripheral blood, cord blood, chorionic villus tissue, or amniotic fluid.

What Does an AAAS Full Gene Sequence Analysis (Allogrove Syndrome) Test Measure?

The AAAS full gene sequence analysis examines the AAAS gene, located on chromosome 12, which carries instructions for producing a protein called ALADIN. This protein is active in the adrenal glands, brain, and digestive system. The test looks for the following:

Component	What it Detects
Single-nucleotide variants (SNVs)	Small changes in the DNA sequence of the AAAS gene
Insertions and deletions (indels)	Small additions or removals of DNA letters within the gene
Copy number variants (CNVs)	Larger deletions or duplications within the gene

Why is an AAAS Full Gene Sequence Analysis (Allogrove Syndrome) Test Done?

This test is ordered when clinical findings suggest Allgrove syndrome or when a family member has already been diagnosed. It helps confirm a genetic diagnosis and guide further management.

Common Symptoms That May Require This Test

A doctor may recommend the AAAS gene sequencing test if a patient presents with the following symptoms:

Absent or very reduced tears since birth (alacrima)
Difficulty swallowing or frequent vomiting (achalasia)
Unexplained low blood sugar episodes or seizures related to poor adrenal function
Signs of adrenal insufficiency, such as fatigue, weight loss, and low blood pressure
Progressive weakness or numbness (neurological decline)
Delayed growth and development in children
Autonomic problems, such as abnormal sweating or heart rate irregularities

Conditions This Test Can Help Detect

The AAAS full gene sequence analysis can help identify the following conditions:

Allgrove syndrome (Triple A syndrome): a genetic disorder characterised by absent tears, difficulty swallowing, and adrenal insufficiency that does not respond to ACTH stimulation
4A syndrome: a variant that also includes autonomic dysfunction or intellectual disability
Progressive neurological involvement affecting the central, peripheral, and autonomic nervous systems
Carrier status for the AAAS gene mutation in family members

How to Prepare and What to Expect

Preparation for the AAAS full gene sequence analysis test is straightforward. The most important requirement is providing a detailed clinical history before sample collection.

Do You Need to Fast?

No fasting is required before this test. Genetic tests analyse DNA present in your cells from birth, so food or drink does not affect the result in any way.

Practical Tips Before Your Test

The following points will help ensure your sample is suitable for analysis:

Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
Inform the lab team of any recent blood transfusions; wait at least two weeks after receiving blood products containing white blood cells before sample collection
If you have undergone chemotherapy within the last 120 days, inform your doctor, as this may affect DNA quality
Continue taking all current medications unless your treating doctor advises otherwise
Genetic counselling before and after testing is strongly recommended
For CVS or amniotic fluid collection, the sample will be collected by a specialist in a clinical setting

Step-by-Step Procedure

This test accepts multiple sample types. The collection procedure varies depending on the sample required.

Peripheral Blood or Cord Blood (EDTA Tube):

A healthcare professional cleans the skin at the collection site, usually the inner elbow.
A small blood sample (3 ml) is drawn into a lavender-top EDTA tube.
The sample is labelled with your details and the date of collection.
It is stored refrigerated between 2 and 8 degrees Celsius and dispatched to the laboratory.
The laboratory performs Sanger sequencing and analyses the data for variants.
Results are reviewed by a specialist, and your report is prepared within 20 days.

Chorionic Villus Sample (CVS):

A gynaecologist or maternal-foetal medicine specialist performs the CVS procedure in a clinical setting.
Approximately 30 mg of chorionic villus tissue is collected using a sterile container.
The sample is labelled, refrigerated between 2 and 8 degrees Celsius, and transported promptly.
The laboratory processes the tissue and carries out Sanger sequencing.
Results are reviewed, and your report is issued within 20 days.

Amniotic Fluid:

An obstetrician performs amniocentesis in a clinical setting under ultrasound guidance.
20 ml of amniotic fluid is collected in a Falcon tube specifically designed for this purpose.
The sample is labelled and refrigerated between 2 and 8 degrees Celsius for transport to the lab.
Sanger sequencing is performed, and results are reported within 20 days.

Factors That Can Affect Accuracy

The following factors may influence the reliability of your test result:

Recent blood transfusions or receipt of blood products containing white blood cells
Chemotherapy treatment within the last 120 days
Poor sample quality due to improper storage or delayed transport
Active blood cancers, which may complicate DNA analysis

Understanding Your AAAS Full Gene Sequence Analysis (Allogrove Syndrome) Test Results

Results from this test are qualitative, meaning they are reported as detected or not detected rather than as a numerical value. Your doctor or genetic counsellor will explain what the findings mean for you and your family.

Result Category	Meaning
No pathogenic variant detected	No disease-causing mutation found in the AAAS gene
Pathogenic variant detected	A disease-causing mutation has been identified, supporting a diagnosis of Allgrove syndrome
Variant of uncertain significance (VUS)	A change in the gene was found, but its clinical significance is currently unclear

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.

Results During Special Conditions

Certain circumstances can affect how results are interpreted:

Recent chemotherapy may reduce DNA quality and affect the reliability of sequencing data.
Blood transfusions involving white blood cells within the past two weeks may introduce donor DNA and complicate analysis.

How to Maintain Healthy Levels

This is a diagnostic genetic test, so the concept of maintaining healthy levels does not apply in the usual sense. General guidance for those undergoing or awaiting genetic testing includes:

Stay well hydrated before a blood draw to make sample collection easier
Keep a record of all symptoms and share them with your specialist team
Follow up regularly with your treating doctors, particularly if symptoms are ongoing or progressing

Lupin Diagnostics AAAS Full Gene Sequence Analysis (Allogrove Syndrome) Test Price

The AAAS full gene sequence analysis test cost at Lupin Diagnostics starts at ₹24,000. This test requires a visit to a Lupin Diagnostics centre or a clinical setting for sample collection; home collection is not available for this test.

City	Approximate Price (₹)
BHOPAL	24000
CHENNAI	24000
HYDERABAD	24000
KOLKATA	24000
NAVI MUMBAI	24000
PUNE	24000

Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.

How to Book

Follow these steps to book your AAAS full gene sequence analysis test online:

Select the test on the Lupin Diagnostics website.
Choose your city and preferred centre location.
Visit the centre at your scheduled time for sample collection.
Receive your report via email or WhatsApp within the stipulated turnaround time.

Frequently Asked Questions

The AAAS gene provides instructions for making the ALADIN protein, which is active in the adrenal glands, brain, and digestive system. Mutations in this gene cause Allgrove syndrome. Testing the gene helps confirm the diagnosis and identify family members who may carry the same mutation.

This test is recommended for individuals showing signs of Allgrove syndrome, such as absent tears from birth, difficulty swallowing, or unexplained adrenal insufficiency. Any young patient with adrenal insufficiency not explained by other conditions should be assessed for this syndrome. Family members of a confirmed patient may also benefit from testing.

At Lupin Diagnostics, results are delivered within 20 days of sample collection. The time is needed for thorough sequencing and careful analysis of the genetic data by specialist scientists.

No fasting is needed. Genetic tests look at DNA, which does not change based on what you eat or drink. You can continue your normal routine on the day of sample collection.

A positive result means a disease-causing mutation has been found in the AAAS gene, which supports a diagnosis of Allgrove syndrome. Your doctor or genetic counsellor will explain what this means for your health and discuss the next steps, including specialist referrals and management options.

Yes. Since Allgrove syndrome follows an autosomal recessive inheritance pattern, a person can carry one faulty copy of the AAAS gene without showing symptoms. The AAAS gene sequencing test can identify such carriers, which is useful for family planning and risk assessment in relatives.

For most patients, the procedure involves a simple blood draw from a vein in the arm. In prenatal settings, the sample may be chorionic villus tissue or amniotic fluid, collected by a specialist. The process is brief, and the collected sample is sent to the laboratory for Sanger sequencing analysis.