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TTI2 Gene Mental retardation, autosomal recessive type 39 NGS Genetic Test

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TTI2 Gene Mental retardation, autosomal recessive type 39 NGS Genetic Test

Short Name: TTI2 NGS Test

Also known as: TTI2 Gene Mutation Test, Autosomal Recessive Mental Retardation Type 39 Genetic Test, MRT39 NGS Sequencing

TTI2 Gene Mental retardation, autosomal recessive type 39 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / FTA Card samples. Results in Results are generally available within 3 to 4 weeks after sample receipt. A detailed interpretive report will be shared by the laboratory, and a genetic counselor will discuss the clinical relevance.. 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 identify pathogenic sequence variants in the TTI2 gene that cause autosomal recessive intellectual disability type 39 (MRT39), thereby confirming a clinical diagnosis, enabling carrier detection, and informing reproductive decisions.

Test Code
4263
CPT Code
81403
ICD Code
Z13.2
Price
₹20,000
Sample Type
Blood / Extracted DNA / FTA Card
Result Time
Results are generally available within 3 to 4 weeks after sample receipt. A detailed interpretive report will be shared by the laboratory, and a genetic counselor will discuss the clinical relevance.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. Patient must bring relevant clinical history, family pedigree, and previous test reports.

Method: Peripheral blood draw or FTA card spotting

Step 2

Laboratory Analysis

A qualified phlebotomist will collect 2-3 mL of peripheral blood in an EDTA tube, or a few drops on an FTA card, under sterile conditions.

Step 3

Report Delivery

No specific precautions are required after sample collection. The patient can resume normal activities immediately.

Timeline: Results are generally available within 3 to 4 weeks after sample receipt. A detailed interpretive report will be shared by the laboratory, and a genetic counselor will discuss the clinical relevance.

Patient Instructions

1
Before the Test:No special preparation is required. Patients should bring a list of current medications, medical history, and any prior genetic test results.
2
During the Test:A healthcare professional will draw a small amount of blood from the arm, or a blood spot may be collected on an FTA card. The process is quick and causes minimal discomfort.
3
After the Test:There is no downtime. Patients can resume all normal activities immediately after sample collection.

About This Test

Who Should Get This Test

To identify pathogenic sequence variants in the TTI2 gene that cause autosomal recessive intellectual disability type 39 (MRT39), thereby confirming a clinical diagnosis, enabling carrier detection, and informing reproductive decisions.

How to Prepare

  • Hospital or clinic details must include the patient's full name, date of birth, and referral information
  • Complete genetic counseling is required before the test for pedigree construction
  • If using FTA card, allow the blood spot to dry completely before packing
  • For extracted DNA, ensure the sample is labeled and stored at appropriate temperature

Doctor's Notes

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

"This NGS test is valuable for couples with a history of autosomal recessive intellectual disability and for children presenting with unexplained developmental delay. Early diagnosis supports informed family planning and targeted management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / FTA Card
Sample Volume2-3 mL blood or as specified
ContainerEDTA tube or FTA card
Collection MethodPeripheral blood draw or FTA card spotting

Sample Stability

EDTA blood: 72 hours at 2–8°C
Extracted DNA: 1 year at -20°C
FTA card: Stable for several months at ambient temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Mislabeled or unlabeled sample
  • EDTA tube not filled or containing heparin
  • Sample stored at extreme temperatures

Understanding Your Results

The test analyzes the entire coding region of the TTI2 gene for sequence variants. Detection of biallelic pathogenic or likely pathogenic variants confirms the diagnosis of autosomal recessive intellectual disability type 39. Carrier status is indicated when a single pathogenic variant is found in an individual clinically unaffected by the condition.
📊

Positive

Two pathogenic (or likely pathogenic) mutations detected in TTI2 gene – confirms diagnosis of MRT39.

📊

Carrier

One pathogenic mutation detected in TTI2 gene – individual is a carrier, unaffected, but at risk of passing the mutation to children.

📊

Negative

No pathogenic mutation identified in TTI2 gene – the diagnosis of MRT39 is less likely, but other genetic causes should be considered.

📊

Variant of Uncertain Significance (VUS)

A variant was found whose clinical significance is not yet known. Family testing or additional evidence may be required to reclassify.

⚠️ When to Consult a Doctor:

If your child shows developmental delay, intellectual disability, or unexplained neurological symptoms, consult a clinical geneticist or pediatric neurologist to discuss the appropriateness of this test. Couples with a family history of autosomal recessive intellectual disability should seek preconception counseling.

Limitations

  • ⚠NGS detects point mutations and small insertions/deletions but may miss large exonic deletions or duplications
  • ⚠Variants of uncertain significance (VUS) may be reported; further family segregation testing may be needed
  • ⚠This test is limited to the TTI2 gene and does not rule out other genetic causes of intellectual disability
  • ⚠Regulatory guidelines and interpretation criteria continue to evolve; the report is based on current evidence

Risks & Considerations

  • ●Minimal pain or bruising at the needle puncture site
  • ●Dizziness or lightheadedness during blood draw
  • ●Very low risk of infection (standard sterile precautions used)

Interfering Factors

  • ●Poor DNA quality or quantity can affect sequencing
  • ●Large structural rearrangements may not be detected by NGS
  • ●Presence of maternal cell contamination in blood samples
  • ●Recent blood transfusion may dilute nucleated cells

Compare With Similar Tests

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Frequently Asked Questions

What is the TTI2 gene and why is it important?
The TTI2 gene encodes a protein involved in the proper development and function of neurons. Mutations in this gene disrupt neuron signaling and lead to autosomal recessive intellectual disability type 39 (MRT39).
What does autosomal recessive type 39 mental retardation mean?
It means that a person inherits two mutated copies of the TTI2 gene (one from each parent) to develop the condition. The number 39 refers to a specific classification within the genetic types of autosomal recessive intellectual disability.
Who should take this TTI2 gene NGS test?
This test is recommended for individuals with intellectual disability, developmental delay, speech delay, or motor coordination problems with no identified cause, especially if they have a family history of autosomal recessive intellectual disability or if parental consanguinity is present.
How is the sample collected for this genetic test?
A blood sample is drawn from a vein in the arm, or a few drops of blood are collected on an FTA card. Alternatively, extracted DNA can be submitted. All collection methods are simple and do not require fasting.
Does this test require fasting before sample collection?
No, fasting is not required for this genetic test. You can eat and drink normally before your blood sample is collected.
What is the cost of the TTI2 gene NGS genetic test?
The cost is INR 20,000, which includes genetic counseling, sample collection, NGS sequencing, bioinformatics analysis, and a detailed clinical report.
How long does it take to get the reports?
Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory. Turnaround time may vary depending on sample quality and sequencing depth.
How accurate is NGS sequencing for the TTI2 gene?
NGS is highly accurate for detecting point mutations, small insertions, and deletions. With sufficient read depth, the analytical sensitivity and specificity are greater than 99% for single-nucleotide variants in the targeted region.
What do positive, negative, and VUS results mean?
Positive: two pathogenic mutations found – confirms MRT39. Negative: no pathogenic mutation found – MRT39 is unlikely, but other genetic causes should be explored. VUS: a variant of uncertain significance was found – it is unclear whether it causes disease, and further family testing may be needed.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings of this test across more than 150 cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, and Chennai.
Do I need genetic counseling before this test?
Yes, pre-test genetic counseling is essential. It allows a trained genetic counselor to draw a detailed family pedigree and explain the risks, benefits, and limitations of the test before you provide consent.
Are there any risks or side effects of this genetic test?
The only risk is the standard discomfort from a blood draw, such as minor pain, bruising, or rarely dizziness. There are no long-term risks. The psychological impact of results should be discussed with a genetic counselor.
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.

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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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