Autism Gene Panel Test: Booking, Price, and Results
About Autism Gene Panel Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | ASD Gene Panel, Autism Spectrum Disorder Genetic Panel, Autism NGS Panel |
| Sample Type | Amniotic fluid (Falcon tube), peripheral blood (EDTA tube), or chorionic villus (CVS) |
| Fasting Required | No |
| Report Time | 35 days |
| Recommended For | All ages, both genders; primarily children with a clinical ASD diagnosis or developmental delays |
| Price | Starting at ₹21,600 |
What is an Autism Gene Panel Test?
The Autism Gene Panel Test is a specialised genetic test that analyses multiple genes associated with autism spectrum disorder (ASD) and related developmental conditions. It uses Next Generation Sequencing (NGS), a technology that reads large sections of DNA simultaneously, to identify genetic variants that may explain ASD features. The test is prescribed by doctors when a clinical or developmental assessment suggests a possible genetic cause. It may also be known as the ASD Gene Panel or Autism Spectrum Disorder Genetic Panel.
What Does an Autism Gene Panel Test Measure?
This test analyses over 100 genes that have well-established links to autism and related syndromes. The genes fall into several key categories.
| Gene Category | Examples | What They Relate To |
|---|---|---|
| Synaptic function genes | SHANK3, NLGN3, NLGN4X, NRXN1 | How nerve cells communicate with each other |
| Neuronal development genes | CHD8, ADNP, ARID1B, SCN2A | How nerve cells grow and develop |
| Chromatin remodelling genes | Various | How DNA is packaged and read by cells |
| Syndromic autism genes | MECP2, FMR1, TSC1, TSC2 | Genetic syndromes that include ASD as a feature |
Why is an Autism Gene Panel Test Done?
Genetic factors play a significant role in autism. Studies suggest that genetic syndromes or chromosomal differences are present in up to 40% of individuals with ASD. This test helps identify whether a specific genetic cause is present.
Common Symptoms That May Require This Test
A doctor may recommend an Autism Gene Panel Test when a child or individual shows the following signs.
- Delayed speech and language development
- Difficulty with social interaction or communication
- Restricted or repetitive behaviours
- Broader developmental delays or intellectual disability
- Seizures alongside developmental concerns
- Unusual responses to sensory input (sounds, textures, light)
- A family history of genetic conditions associated with ASD
Conditions This Test Can Help Detect
The test can help identify several conditions that include autism as part of their presentation.
- Fragile X syndrome
- Rett syndrome
- Tuberous Sclerosis Complex
- Angelman syndrome
- PTEN hamartoma syndrome
- 15q11-q13 duplication syndrome
- Other syndromic forms of autism with an identifiable genetic cause
How to Prepare and What to Expect
Preparation for this test is straightforward, but bringing the right information to your appointment is essential.
Do You Need to Fast?
No fasting is required before the Autism Gene Panel Test. You may eat and drink normally on the day of sample collection.
Practical Tips Before Your Test
The following steps will help ensure a smooth sample collection process.
- Bring a detailed clinical history, including symptoms, previous test results, and family history, as this is required for the test.
- Carry a valid doctor's prescription, as this is mandatory for the test.
- Inform the laboratory if the patient has had a recent blood transfusion, as this may affect the DNA results.
- Genetic counselling before testing is recommended to help you understand what the results may or may not mean.
- Wear comfortable, loose-fitting clothing that allows easy access to the arm for blood collection.
Step-by-Step Procedure
The Autism Gene Panel Test procedure involves collecting one or more biological samples, depending on the clinical situation. Below is what to expect for each sample type.
Peripheral Blood Sample:
- A trained phlebotomist (blood collection specialist) cleans the skin on the inner arm with an antiseptic swab.
- A small blood sample (approximately 3 ml) is drawn into a lavender-top EDTA tube.
- The tube is labelled with the patient's name, date of birth, and collection date.
- The sample is stored at refrigerated temperature and transported to the laboratory.
- DNA is extracted from the blood and analysed using NGS technology.
- A clinical geneticist reviews the variants identified, and a detailed report is generated.
Amniotic Fluid Sample (Prenatal):
- This sample is collected by a qualified gynaecologist in a clinical setting using a procedure called amniocentesis.
- Approximately 20 ml of amniotic fluid is collected into a Falcon tube.
- The sample is stored refrigerated (2°C to 10°C) and dispatched to the laboratory promptly.
- DNA is extracted and processed using NGS.
Chorionic Villus Sample (CVS, Prenatal):
- This sample is collected by a gynaecologist during a CVS procedure in the first trimester of pregnancy.
- Approximately 30 mg of chorionic villus tissue is placed in a sterile container.
- The sample is labelled, stored correctly, and sent to the laboratory for analysis.
Factors That Can Affect Accuracy
The following factors can influence the quality and reliability of results.
- Poor DNA quality due to improper sample storage or transport
- Recent blood transfusions (for blood samples)
- An incomplete clinical history was provided to the laboratory
- Variants in genes not included in the panel (the test cannot detect all possible genetic causes)
Understanding Your Autism Gene Panel Test Results
Results from this test are detailed and should always be reviewed with a qualified doctor or genetic counsellor. The report will classify any gene variants found into the following categories.
| Result Category | What it Means |
|---|---|
| Pathogenic or Likely Pathogenic | A disease-causing gene variant has been identified |
| Variant of Uncertain Significance (VUS) | The clinical relevance of this variant is currently unclear |
| Benign or Likely Benign | The variant found is not considered clinically significant |
| Negative | No reportable variants were identified in the genes tested |
A negative result does not rule out ASD, as autism can have multiple causes, including variants in genes not covered by this panel. A pathogenic result confirms a genetic cause and may guide further medical management and family risk assessment. A VUS should not be used to make clinical decisions; these are periodically re-evaluated as scientific knowledge advances.
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
While genetic variants cannot be changed, the following general steps support better outcomes.
- Early behavioural intervention, such as structured therapy programmes, can significantly improve developmental outcomes regardless of genetic findings.
- Regular developmental check-ups and multidisciplinary follow-up (involving paediatricians, speech therapists, and occupational therapists) are beneficial.
- Connecting with condition-specific support groups can provide practical guidance and emotional support for families.
Lupin Diagnostics Autism Gene Panel Test Price
The Autism Gene Panel Test cost at Lupin Diagnostics starts at ₹21,600. This test requires a visit to a Lupin Diagnostics centre; home collection is not available due to the specialised nature of the sample types required.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 21600 |
| CHENNAI | 21600 |
| HYDERABAD | 21600 |
| KOLKATA | 21600 |
| NAVI MUMBAI | 21600 |
| PUNE | 21600 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Booking your Autism Gene Panel Test online at Lupin Diagnostics is straightforward.
- Select the Autism Gene Panel 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 35 days of sample receipt.
Frequently Asked Questions
No, the Autism Gene Panel Test does not diagnose autism. Autism is a clinical and behavioural diagnosis made by a specialist doctor. This test identifies genetic variants that may underlie certain ASD features, but a clinical assessment remains essential for any diagnosis.
This test can be considered at the time of an autism or developmental delay diagnosis, at any age. It is most commonly requested for children, but adults with ASD who have not previously undergone genetic testing may also benefit from it.
A genetic cause is identified in approximately 20% to 25% of children with autism using current testing methods. Advances in NGS technology have gradually improved this figure, and findings continue to increase as our understanding of autism genetics grows.
You will need a valid doctor's prescription and a detailed clinical history, including the patient's symptoms, previous test results, and family medical history. This information is required for accurate interpretation of the results.
The report is delivered within 35 days from the date the laboratory receives the sample. NGS analysis and clinical review of genetic variants are detailed processes that require this time for accurate reporting.
A VUS means that a gene variant has been found, but there is currently not enough scientific evidence to confirm whether it causes disease or not. Laboratories re-evaluate VUS findings over time as new research becomes available. A genetic counsellor can help explain what this means for your family.
Yes, prenatal testing using amniotic fluid or chorionic villus samples is possible, but it is not routine. It is typically considered only when there is a confirmed family history of a genetic condition associated with ASD. Your gynaecologist and a genetic specialist will guide this decision.
Autism Gene Panel Test: Booking, Price, and Results
