Skip to main content
DNA Labs India

TMLHE Gene Autism Susceptibility, X-Linked Type 6 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TMLHE Gene Autism Susceptibility, X-Linked Type 6 NGS Genetic Test

Short Name: TMLHE Gene Test

Also known as: TMLHE Gene Mutation Analysis, X-Linked Type 6 Autism Susceptibility Test, Trimethyllysine Dioxygenase Gene Test

TMLHE Gene Autism Susceptibility, X-Linked Type 6 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 available within 3 to 4 weeks. You will be notified via SMS/email once the report is ready.. 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

The purpose of this NGS genetic test is to detect mutations in the TMLHE gene that may increase susceptibility to autism spectrum disorder and X-linked type 6 intellectual disability. The test aims to provide molecular confirmation, assist in early diagnosis, and enable genetic counseling for affected families.

Test Code
3905
CPT Code
N/A
ICD Code
N/A
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports available within 3 to 4 weeks. You will be notified via SMS/email once the report is ready.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, genetic counseling is strongly recommended before testing to understand the implications and limitations.

Method: Peripheral blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from the arm or a few drops on an FTA card from a finger prick. The procedure is quick and minimally invasive.

Step 3

Report Delivery

The sample is securely transported to the laboratory. Results are typically available in 3 to 4 weeks. You can download your report online or receive it via email.

Timeline: Reports available within 3 to 4 weeks. You will be notified via SMS/email once the report is ready.

Patient Instructions

1
Before the Test:Pre-test genetic counseling is recommended. Please bring any relevant medical records and family history details to the appointment.
2
During the Test:A simple blood sample is taken. In the case of FTA card, a finger-prick blood spot is collected without noise.
3
After the Test:You will receive your report in 3-4 weeks. The report includes raw data files. A genetic counselor can help explain the results.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect mutations in the TMLHE gene that may increase susceptibility to autism spectrum disorder and X-linked type 6 intellectual disability. The test aims to provide molecular confirmation, assist in early diagnosis, and enable genetic counseling for affected families.

How to Prepare

  • For blood: use EDTA vacutainer or FTA card
  • Label the sample with patient name and date of birth
  • Avoid hemolysis; deliver within 24 hours to laboratory
  • FTA card should be air-dried before packing

Doctor's Notes

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

"Genetic testing for TMLHE gene susceptibility can provide important insights into autism risk, especially in families with X-linked inheritance patterns. Pre-test genetic counseling is essential."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL blood or 1 FTA card spot
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral blood draw or FTA card blood spot

Sample Stability

Whole blood: 7 days at room temperature
Extracted DNA: stable for 1 year at -20°C
FTA card: stable for months at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient quantity
  • Sample labeled incorrectly
  • Sample left at extreme temperatures

Understanding Your Results

The clinical report will classify variants in the TMLHE gene according to American College of Medical Genetics and Genomics (ACMG) guidelines.
📊

Positive (pathogenic/likely pathogenic variant detected)

Indicates increased susceptibility to autism spectrum disorder or X-linked type 6 intellectual disability. Genetic counseling recommended.

📊

Negative (no pathogenic variant detected)

No causative TMLHE gene mutation found. Other genetic or environmental causes for symptoms may be considered.

📊

Variant of Uncertain Significance (VUS)

A genetic change was found, but clinical significance is unknown. Further testing and family studies may be needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if you or your child have symptoms of autism, developmental delay, intellectual disability, or a family history of X-linked disorders. Genetic testing can confirm or exclude TMLHE-related susceptibility.

Limitations

  • ⚠NGS does not detect large structural rearrangements, repeat expansions, or deep intronic variants.
  • ⚠Variant of uncertain significance (VUS) may be reported and require further evaluation.
  • ⚠This test does not cover all genes associated with autism.
  • ⚠Negative results do not rule out autism due to other genetic or environmental causes.

Risks & Considerations

  • ●Low risk of bruising or discomfort at blood draw site
  • ●Potential psychological impact of genetic results
  • ●Emotional distress from VUS or unexpected findings

Interfering Factors

  • ●Contaminated or degraded DNA can affect sequencing accuracy.
  • ●Presence of maternal cell contamination in sample
  • ●Certain rare genetic variants may be difficult to interpret.
  • ●Recent blood transfusion may dilute the DNA sample.

Compare With Similar Tests

TestTMLHE Gene Autism Susceptibility, X-Linked Type 6 NGS Genetic TestAutism Spectrum Disorder (ASD) Comprehensive PanelChromosomal Microarray (CMA)Fragile X Syndrome (FMR1) Testing
ComparisonTMLHE Gene Autism Susceptibility, X-Linked Type 6 NGS Genetic Test

Frequently Asked Questions

What is the TMLHE gene?
The TMLHE gene provides instructions for making trimethyllysine dioxygenase, an enzyme involved in lysine metabolism. Mutations in this gene have been linked to X-linked type 6 autism susceptibility and intellectual disability.
How much does the TMLHE gene autism susceptibility NGS test cost?
The test costs INR 20,000 at DNA Labs India. This includes free home sample collection and the clinical report along with raw data files.
What is X-linked type 6 autism susceptibility?
X-linked type 6 refers to a form of autism susceptibility caused by mutations in the TMLHE gene located on the X chromosome. This pattern affects males more severely and can be inherited from carrier mothers.
What does Next-Generation Sequencing (NGS) technology mean?
NGS is a high-throughput DNA sequencing method that reads millions of DNA fragments simultaneously. It allows comprehensive analysis of the TMLHE gene to detect small mutations that may cause autism susceptibility.
Who should consider taking this TMLHE gene test?
Individuals with autism spectrum disorder, intellectual disability, developmental delay, or a family history of X-linked autism or intellectual disability should discuss genetic testing with a doctor. It is also useful for reproductive risk assessment.
What sample is required for the test?
We accept whole blood in an EDTA tube, extracted DNA sample, or a single drop of blood on an FTA card. The sample can be collected at home by our phlebotomist.
How long will it take to get the results?
The turnaround time is 3 to 4 weeks. You will receive a conclusive clinical report, along with Raw Data, FASTQ, and VCF files for transparency.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the TMLHE gene, increasing susceptibility to autism spectrum disorder or intellectual disability. Genetic counseling is recommended for family planning and management.
What does a negative test result mean?
A negative result means no pathogenic variant was found in the TMLHE gene. This does not rule out autism caused by other genes or environmental factors.
Is the TMLHE gene test covered by insurance?
Most insurance plans do not cover genetic testing for autism susceptibility. However, some third-party schemes or private payers may partially reimburse. We recommend checking with your provider.
Why should I choose DNA Labs India for this genetic test?
DNA Labs India is transparent in providing raw data (FASTQ, VCF) along with the clinical report. Our NGS testing is performed in NABL-accredited facilities and includes free home sample collection across major Indian cities.
Are there any special preparations required before the test?
No fasting or special preparation is required. A genetic counseling session to draw a pedigree chart of family members is recommended before testing. The sample is collected at room temperature and sent to the lab.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.