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MAOA Gene Brunner Syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MAOA Gene Brunner Syndrome NGS Genetic Test

Short Name: MAOA NGS Test

Also known as: MAOA Gene Mutation Test, Brunner Syndrome Genetic Test, Monoamine Oxidase A Deficiency NGS Test

MAOA Gene Brunner Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / FTA Card Blood Spot samples. Results in Test reports are delivered within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestMaleAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to detect pathogenic variants in the MAOA gene that confirm the diagnosis of Brunner syndrome. It also helps in carrier identification, family planning, and early intervention with behavioral and educational support.

Test Code
3938
CPT Code
81479
ICD Code
E70.8
Price
₹20,000
Sample Type
Blood / Extracted DNA / FTA Card Blood Spot
Result Time
Test reports are delivered within 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Please bring any prior medical reports, medication list, and clinical history of the patient. If the patient has received a blood transfusion or bone marrow transplant, inform the laboratory in advance. A genetic counselling session is recommended prior to the test to draw a pedigree chart and understand the implications of testing.

Method: Venipuncture or Finger Prick

Step 2

Laboratory Analysis

The sample is usually collected by venipuncture into an EDTA tube, or a finger prick blood spot on an FTA card. The procedure is routine and takes less than 5 minutes.

Step 3

Report Delivery

No special precautions are required after sample collection. The patient can resume normal activities immediately. The report will be available within 3 to 4 weeks.

Timeline: Test reports are delivered within 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:A pre-test genetic counselling session is included. The counselor will gather family history, create a pedigree chart, and obtain informed consent. The patient should provide a detailed clinical history including behavioral symptoms and any prior genetic testing.
2
During the Test:During the test, a blood sample is taken (venipuncture) or a finger prick FTA card is prepared. The sample is labeled and sent to the laboratory where DNA extraction, library preparation, NGS sequencing, and bioinformatic analysis are performed.
3
After the Test:The laboratory sends the clinical report along with raw data files (FASTQ and VCF) to the patient or referring physician. A post-test genetic counselling session is recommended to explain the results and discuss reproductive options if needed.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the MAOA gene that confirm the diagnosis of Brunner syndrome. It also helps in carrier identification, family planning, and early intervention with behavioral and educational support.

How to Prepare

  • A blood sample should be collected in an EDTA vacutainer
  • Alternatively, a single drop of blood can be placed on an FTA card and air-dried
  • Samples should be transported to the laboratory at room temperature within 24 hours
  • Do not freeze whole blood without prior DNA extraction

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Brunner syndrome is an X-linked condition with significant reproductive and family planning implications. Genetic testing of the MAOA gene is essential for affected males and for carrier detection in females of reproductive age."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / FTA Card Blood Spot
Sample Volume2-3 ml blood or one drop on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger Prick

Sample Stability

Room Temperature
Refrigerated (2-8°C)
Frozen (-20°C)
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Improperly labeled samples
  • Samples received at elevated temperatures for more than 48 hours
  • Inadequate sample volume for DNA extraction

Understanding Your Results

The result of MAOA gene NGS genetic testing should be interpreted by a qualified clinical geneticist in the context of the patient's clinical presentation, family history, and other laboratory findings.
📊

Confirms the diagnosis of Brunner syndrome. The patient may exhibit the characteristic behavioral and intellectual symptoms. Genetic counselling is strongly advised.

Recommendation: Follow-up with a neurologist and genetic counselor for management and family testing.

📊

Highly suggestive as the cause of Brunner syndrome; further evidence may be required.

Recommendation: Additional familial segregation analysis is recommended.

📊

The variant's clinical significance is unknown; it cannot be used to confirm or exclude the diagnosis.

Recommendation: Need further testing of family members and possible functional studies.

📊

The MAOA gene sequencing does not identify a disease-causing variant. Brunner syndrome is highly unlikely, but not completely excluded if other gene regions are involved.

Recommendation: Consider other genetic tests, such as whole exome sequencing or a broader neurodevelopmental disorder panel.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist if there is a family history of Brunner syndrome, or if a male child shows unexplained aggression, intellectual disability, or developmental delay. Also seek medical advice if a female family member wants to know her carrier status before planning pregnancy.

Limitations

  • ⚠NGS may not detect large structural rearrangements or deep intronic variants in the MAOA gene
  • ⚠This test is limited to the MAOA gene and does not exclude other genetic causes of intellectual disability or behavioral disorders
  • ⚠Variant of uncertain significance (VUS) may be reported and requires further familial testing
  • ⚠Mosaic mutations may be underestimated depending on the sequencing depth

Risks & Considerations

  • ●Minimal risk of pain, bruising, or bleeding at the venipuncture site
  • ●Finger prick may cause slight discomfort
  • ●No significant direct medical risks are associated with this genetic test

Interfering Factors

  • ●Recent blood transfusion (allogeneic or maternal) may contaminate the sample and affect NGS analysis
  • ●Bone marrow transplantation can lead to mixed DNA results
  • ●Sample hemolysis or degradation due to improper storage or transport
  • ●Inadequate sample volume or poor DNA extraction quality

Compare With Similar Tests

TestMAOA Gene Brunner Syndrome NGS Genetic TestSanger SequencingChromosomal Microarray (CMA)Whole Exome Sequencing (WES)
ComparisonMAOA Gene Brunner Syndrome NGS Genetic Test

Frequently Asked Questions

What is Brunner syndrome?
Brunner syndrome is a rare X-linked genetic disorder caused by mutations in the MAOA gene. It leads to a deficiency of the enzyme monoamine oxidase A, resulting in increased levels of dopamine, serotonin, and norepinephrine in the brain. Symptoms include aggression, impulsivity, intellectual disability, and behavioral issues.
How is Brunner syndrome inherited?
Brunner syndrome follows an X-linked recessive inheritance pattern. The MAOA gene is located on the X chromosome. Males who inherit a mutated copy of the gene are usually affected, while females who have one mutated copy are carriers and may show mild or no symptoms.
Who should get this MAOA gene NGS genetic test?
This test is recommended for individuals with clinical features suggestive of Brunner syndrome, such as unexplained aggressive behavior, intellectual disability, ADHD, or developmental delay. It is also offered to family members of known MAOA mutation carriers and for carrier testing in females with a positive family history.
What is the cost of the MAOA gene Brunner syndrome NGS test in India?
The cost is INR 20000 at DNA Labs India. This price includes NGS testing, clinical report, raw data (FASTQ and VCF files), and a genetic counselling session. We also offer free home sample collection in major cities across India.
What sample is required for the test?
The sample can be a blood sample collected in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. The sample is used to analyze the MAOA gene for mutations.
How long does it take to get the test results?
The turnaround time is 3 to 4 weeks. After the NGS sequencing and bioinformatic analysis, the report is delivered by email, WhatsApp, or online portal. Raw data files are also shared.
What does a positive test result mean?
A positive result means a pathogenic or likely pathogenic variant in the MAOA gene has been identified. This confirms the diagnosis of Brunner syndrome. It is recommended to seek genetic counselling and discuss management and reproductive options.
What does a negative test result mean?
A negative result indicates that no pathogenic variant was detected in the MAOA gene. However, it does not completely rule out Brunner syndrome if the condition is suspected due to other gene defects or non-coding mutations. Further genetic testing may be needed.
Is fasting required before the test?
No, fasting is not required for this genetic test. The sample can be collected at any time of the day.
Can I get free home sample collection?
Yes, DNA Labs India offers free home sample collection for online bookings of the MAOA Gene Brunner Syndrome NGS Genetic Test. This service is available in over 500 cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, and more.
Will I receive raw data files with the report?
Yes, DNA Labs India is transparent and provides raw data files, including FASTQ and VCF, along with the conclusive clinical test report. This is unique and helps patients and clinicians to review data independently.
Is genetic counselling included in the test cost?
Yes, a pre-test genetic counselling session is included, wherein a pedigree chart is drawn and the patient's clinical history is recorded. Post-test counselling to explain results is also recommended and part of the comprehensive service.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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