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ADAT3 Gene Mental retardation, autosomal recessive type 36 NGS Genetic Test

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ADAT3 Gene Mental retardation, autosomal recessive type 36 NGS Genetic Test

Short Name: ADAT3 MRT36 NGS

Also known as: MRT36, ADAT3-Related Intellectual Disability, Autosomal Recessive Intellectual Disability Type 36, ADAT3 Gene Mutation Test

ADAT3 Gene Mental retardation, autosomal recessive type 36 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Whole Blood (EDTA) samples. Results in Reports are available within 3 to 4 weeks after the laboratory receives the sample.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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

To confirm the clinical diagnosis of ADAT3-related autosomal recessive intellectual disability type 36 by identifying pathogenic variants in the ADAT3 gene, and to provide accurate genetic information for family risk assessment and reproductive counseling.

Test Code
4260
Price
₹20,000
Sample Type
Whole Blood (EDTA)
Result Time
Reports are available within 3 to 4 weeks after the laboratory receives the sample.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counseling session is recommended to draw a pedigree chart and explain the implications of the test. Please carry a valid doctor’s referral if available.

Method: Peripheral blood sample collection by trained phlebotomist

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small blood sample from the arm into an EDTA vacutainer. The procedure is quick and generally painless.

Step 3

Report Delivery

There are no post-collection restrictions. The blood sample will be transported to the laboratory at ambient temperature. Report will be ready in 3 to 4 weeks.

Timeline: Reports are available within 3 to 4 weeks after the laboratory receives the sample.

Patient Instructions

1
Before the Test:Complete genetic counseling should be done to understand the autosomal recessive inheritance pattern and the possibility of variants of uncertain significance. No fasting is needed.
2
During the Test:Blood sample collection will be performed in a sterile manner. Ensure the sample tube is labeled correctly.
3
After the Test:The laboratory will process the sample and issue a report in 3 to 4 weeks. Genetic counseling is recommended to understand the result.

About This Test

Who Should Get This Test

To confirm the clinical diagnosis of ADAT3-related autosomal recessive intellectual disability type 36 by identifying pathogenic variants in the ADAT3 gene, and to provide accurate genetic information for family risk assessment and reproductive counseling.

How to Prepare

  • No fasting is required for this genetic test.
  • Complete the prescribed consent and requisition form with accurate clinical history.
  • A genetic counseling session should preferably be done before sample collection.
  • Confirm the patient's identity and label the EDTA tube properly.
  • Home sample collection can be scheduled through online booking.

Doctor's Notes

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

"As this is a hereditary condition, genetic counseling and, where relevant, parental testing are essential to confirm carrier status and guide future family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood (EDTA)
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer
Collection MethodPeripheral blood sample collection by trained phlebotomist

Sample Stability

Whole blood in EDTA: stable at room temperature for up to 24 hours
Whole blood in EDTA: stable at 2-8°C for up to 72 hours
Do not freeze whole blood samples for DNA testing
Sample Rejection Criteria:
  • Sample received without proper label or requisition form
  • Hemolyzed or clotted blood sample
  • Sample received in wrong anticoagulant tube
  • Sample exposed to extreme temperature during transport

Understanding Your Results

This test result must be interpreted by a clinical geneticist. The detection of a pathogenic or likely pathogenic variant in the ADAT3 gene confirms the diagnosis in a clinically affected individual. Carrier status may be determined in asymptomatic family members after appropriate genetic counseling.
📊

Pathogenic or likely pathogenic variant detected in ADAT3 gene

Confirms molecular diagnosis of MRT36 when clinical features are consistent.

📊

One pathogenic variant detected in ADAT3 gene

Indicates carrier status in most cases; should be correlated clinically.

📊

No pathogenic variant detected in ADAT3 gene

Reduces but does not exclude ADAT3-related disorder; other genetic causes should be considered.

📊

Variant of uncertain significance detected

Additional genetic testing in first-degree relatives may help classify clinical significance.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist if a child or adult has unexplained intellectual disability, developmental delay, seizures, or if the test result is positive or uncertain. Genetic counseling is essential before and after the test for family risk assessment and reproductive planning.

Limitations

  • ⚠NGS may not detect all large genomic rearrangements, repeat expansions, or deep intronic variants.
  • ⚠A negative result does not exclude a genetic cause of intellectual disability.
  • ⚠Variants of uncertain significance may require additional family studies.
  • ⚠This targeted test is not a whole-genome test and will not identify mutations in all intellectual disability genes.

Risks & Considerations

  • ●Bruising or minor pain at the blood collection site
  • ●Minor bleeding
  • ●Dizziness or light-headedness during blood draw
  • ●Rare risk of infection at the puncture site

Interfering Factors

  • ●Poor DNA quality or quantity from the blood sample
  • ●Sample contamination or incorrect labeling
  • ●Very large deletions or duplications may not be detected by standard NGS
  • ●Variants in deep intronic or regulatory regions not covered by targeted analysis
  • ●Prior sample degradation due to extreme temperature exposure

Compare With Similar Tests

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Frequently Asked Questions

What is ADAT3 gene mental retardation, autosomal recessive type 36?
It is a rare inherited condition caused by pathogenic changes in both copies of the ADAT3 gene. It is also called MRT36 and is associated with intellectual disability, developmental delay, speech delay, seizures and behavioral issues.
How is the ADAT3 gene NGS genetic test performed?
A blood sample is collected. DNA is extracted and next-generation sequencing is used to read the ADAT3 gene. The sequence is compared with a reference sequence to identify disease-causing variants.
What is the cost of the ADAT3 gene test in India?
DNA Labs India offers this NGS genetic test at a special discounted price of INR 20000, which includes free home sample collection in many cities across India.
Is fasting required before the test?
No, fasting is not required for this DNA test. You can eat and drink normally unless another test scheduled at the same time requires fasting.
What sample is needed for the test?
A small peripheral blood sample is collected in an EDTA vacutainer. The exact volume is determined by laboratory protocol.
Is home sample collection available?
Yes. For online bookings, DNA Labs India provides free home sample collection in Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, and many other cities across India.
Who should take this test?
It is recommended for individuals with unexplained intellectual disability, global developmental delay, speech/motor delay, seizures, or behavioral problems when a genetic cause is suspected by a neurologist or clinical geneticist.
How long does the report take?
The report is generally available in 3 to 4 weeks after the sample is received by the laboratory.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the ADAT3 gene. It does not completely rule out a genetic cause, and other genes or types of variations may be responsible.
Can this test detect carriers of ADAT3 mutation?
Targeted NGS can identify a single pathogenic ADAT3 variant in an asymptomatic person, indicating carrier status. Carrier testing should only be performed with proper consent and genetic counseling.
Do insurance companies cover this test?
Coverage depends on your insurance policy. PMJAY, CGHS, ECHS and ESIC may not routinely cover this test. Please check directly with your insurer before booking.
Why is genetic counseling recommended before the test?
Genetic counseling helps draw a family pedigree, explains the autosomal recessive inheritance pattern, obtains informed consent, and prepares the patient and family for possible positive, carrier, or uncertain results.
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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