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MTOR Gene Neurodevelopmental disorder, MTOR related NGS Genetic Test

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MTOR Gene Neurodevelopmental disorder, MTOR related NGS Genetic Test

Short Name: MTOR Gene NGS Genetic Test

Also known as: MTOR Gene Neurodevelopmental Disorder NGS Test, MTOR-Related Neurodevelopmental Disorder Genetic Test, MTOR Gene Mutation Analysis

MTOR Gene Neurodevelopmental disorder, MTOR related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally issued within 3 to 4 weeks after the sample is received in the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll age groups🏠 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 detect disease-causing mutations in the MTOR gene and other genes associated with neurodevelopmental disorders using next-generation sequencing, and to support or confirm the clinical diagnosis.

Test Code
4411
CPT Code
Not Available
ICD Code
Not Available
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally issued within 3 to 4 weeks after the sample is received in the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The patient should carry a valid ID and any available clinical history or referral details. Genetic counseling before the test is recommended to discuss the purpose and implications of testing.

Method: Venipuncture / DNA extraction / FTA card blood spot

Step 2

Laboratory Analysis

A small amount of blood is collected from a vein. If using an FTA card, one drop of blood is placed on the designated card area. The process is quick and minimally invasive.

Step 3

Report Delivery

The sample is sent to the laboratory for processing. No restriction on normal activities is required after sample collection.

Timeline: Reports are generally issued within 3 to 4 weeks after the sample is received in the laboratory.

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to review personal and family history, draw a pedigree chart where relevant, and explain the benefits, risks, and expected outcomes of MTOR gene NGS testing.
2
During the Test:The laboratory performs next-generation sequencing on the extracted DNA to read the coding and selected relevant regions of the MTOR gene and the included neurodevelopmental disorder gene panel.
3
After the Test:Once sequencing and data analysis are completed, a clinical report is prepared. The raw data, FASTQ, and VCF files are shared along with the report for transparency.

About This Test

Who Should Get This Test

To detect disease-causing mutations in the MTOR gene and other genes associated with neurodevelopmental disorders using next-generation sequencing, and to support or confirm the clinical diagnosis.

How to Prepare

  • No fasting required.
  • Complete the laboratory form with clinical history and family pedigree if available.
  • Ensure correct patient identification on the sample label.

Doctor's Notes

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

"When a child presents with unexplained developmental delay, seizures, or abnormal head growth, a careful neurological examination along with targeted genetic testing can help identify the underlying cause."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory requirement
ContainerEDTA tube / FTA card
Collection MethodVenipuncture / DNA extraction / FTA card blood spot

Sample Stability

Whole blood in EDTA: 24-48 hours at 2-8°C
Extracted DNA: 1 week at -20°C
FTA card: stable at room temperature for several weeks
Sample Rejection Criteria:
  • Hemolyzed, lipemic, or clotted blood sample
  • Mislabeled sample or incomplete request form
  • Inappropriate transport temperature causing sample degradation
  • Insufficient sample volume or quantity

Understanding Your Results

Detection of a pathogenic or likely pathogenic variant in the MTOR gene may support a diagnosis of MTOR-related neurodevelopmental disorder. All results should be correlated with clinical findings and reviewed by a clinical geneticist or neurologist.
📊

Supports the clinical diagnosis; genetic counseling and targeted family testing are recommended.

Result type: Pathogenic variant detected

📊

Very likely to be causative; follow-up testing or segregation analysis may be advised.

Result type: Likely pathogenic variant detected

📊

Cannot confirm or exclude the diagnosis; further family studies and clinical correlation are needed.

Result type: Variant of uncertain significance detected

📊

Does not rule out MTOR-related or other genetic neurodevelopmental disorders; additional testing may be considered.

Result type: No pathogenic variant detected

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if there is unexplained developmental delay, intellectual disability, seizures, autism spectrum disorder, hypotonia, macrocephaly, or delayed speech and language development.

Limitations

  • ⚠NGS may not detect large structural rearrangements, repeat expansions, or deep intronic variants unless specifically validated.
  • ⚠A negative result does not exclude a genetic cause of the neurodevelopmental disorder.
  • ⚠Variants of uncertain significance may require further family studies and segregation analysis.
  • ⚠Results must be interpreted in the context of clinical findings by a qualified specialist.

Risks & Considerations

  • ●Minimal risk of mild pain or bruising at the blood collection site
  • ●Small risk of bleeding or infection, as with any blood draw
  • ●Possible detection of unexpected genetic findings or variants of uncertain significance
  • ●Potential emotional impact of genetic results on the patient and family

Interfering Factors

  • ●Poor DNA quality or low DNA quantity
  • ●Sample contamination during collection or extraction
  • ●Low sequencing coverage in certain gene regions
  • ●Mosaicism with variant fraction below detection threshold

Frequently Asked Questions

What is MTOR gene neurodevelopmental disorder?
MTOR gene-related neurodevelopmental disorder is a rare genetic condition caused by changes in the MTOR gene. It can lead to intellectual disability, autism spectrum disorder, epilepsy, macrocephaly, hypotonia, and delayed speech or language development. Symptoms vary from person to person.
What does the MTOR NGS genetic test detect?
This test uses next-generation sequencing to analyze the MTOR gene and selected genes associated with neurodevelopmental disorders for disease-causing mutations.
Who should get this test?
This test may be recommended for individuals with unexplained intellectual disability, developmental delay, epilepsy, autism spectrum disorder, macrocephaly, or hypotonia, especially when MTOR-related disorder is suspected by a doctor.
Is fasting required for the MTOR NGS genetic test?
No, fasting is not required. The patient can eat and drink normally before sample collection.
What sample is needed for this test?
The sample can be whole blood, extracted DNA, or one drop of blood on an FTA card. A standard blood sample is usually collected from a vein.
How much does the MTOR NGS genetic test cost in India?
At DNA Labs India, the special price for the MTOR gene NGS genetic test is INR 20,000. Free home sample collection is available for online bookings in many cities across India.
Why are raw data, FASTQ, and VCF files provided?
Raw data, FASTQ, and VCF files allow another qualified geneticist or laboratory to reanalyze the sequencing data for a second opinion, quality audit, or future reinterpretation of variants.
How long does the MTOR NGS test report take?
The clinical report is usually available within 3 to 4 weeks after the sample reaches the laboratory.
Does a negative result rule out all genetic causes of neurodevelopmental disorder?
No. A negative result does not exclude all genetic causes. NGS may not detect large structural changes, certain repeat expansions, or variants in genes not included in the panel.
What does a positive MTOR gene test result mean?
If a pathogenic or likely pathogenic MTOR variant is found, it supports the clinical diagnosis and can help guide management, prognosis, and testing of other family members. A genetic specialist should interpret the result.
What is a variant of uncertain significance (VUS)?
A VUS is a DNA change for which the link to disease is not yet understood. It is not enough to confirm or rule out the diagnosis, and further family studies or functional testing may be needed.
Is genetic counseling recommended with this test?
Yes. Genetic counseling before and after testing is recommended to discuss the benefits, risks, and limitations of the test, as well as the medical and family implications of the 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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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