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DNA Labs India

ACSL4 Gene Mental retardation, X-linked type 63 NGS Genetic Test

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ACSL4 Gene Mental retardation, X-linked type 63 NGS Genetic Test

Short Name: ACSL4 MRX63 NGS Test

Also known as: ACSL4 gene mutation analysis, X-linked mental retardation type 63 genetic test, MRX63 NGS genetic test

ACSL4 Gene Mental retardation, X-linked type 63 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Whole Blood samples. Results in Reports are delivered in 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)All 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 pathogenic variants in the ACSL4 gene in patients suspected of X-linked mental retardation type 63, confirm the clinical diagnosis, and provide actionable information for treatment planning, carrier detection and genetic counselling.

Test Code
4283
Price
₹20,000
Sample Type
Whole Blood
Result Time
Reports are delivered in 3 to 4 weeks from the date the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. No fasting is needed. Please carry any previous genetic test reports, medical records and a valid doctor's referral if available.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small blood sample from a vein in your arm. The procedure takes about 5 minutes and involves minimal discomfort.

Step 3

Report Delivery

You can resume all routine activities immediately. Slight bruising or soreness at the puncture site is temporary and usually resolves within a day.

Timeline: Reports are delivered in 3 to 4 weeks from the date the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No specific preparation is required for the ACSL4 NGS genetic test. Ensure the lab has a copy of the referral and relevant clinical history.
2
During the Test:Blood will be drawn into an EDTA tube. The sample is labelled and sent to the molecular genetics laboratory for DNA extraction and NGS sequencing.
3
After the Test:Once the report is ready, it will be sent through the requested delivery mode. You can schedule a genetic counselling session with the report.

About This Test

Who Should Get This Test

To detect pathogenic variants in the ACSL4 gene in patients suspected of X-linked mental retardation type 63, confirm the clinical diagnosis, and provide actionable information for treatment planning, carrier detection and genetic counselling.

How to Prepare

  • Maintain the blood sample at room temperature as per the collection kit instructions.
  • Do not freeze the blood sample.
  • The sample should reach the laboratory within 24 hours of collection.

Doctor's Notes

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

"X-linked intellectual disability has a 50% carrier risk in female siblings of affected males. Genetic counselling and family planning support are essential."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample VolumeAs per laboratory requirement
ContainerEDTA vacuum tube
Collection MethodVenipuncture

Sample Stability

Whole blood: 24 hours at room temperature (15-25°C)
Whole blood: 72 hours at 2-8°C if transport is delayed
Sample Rejection Criteria:
  • Hemolyzed or visibly clotted sample
  • Insufficient sample volume for DNA extraction
  • Incorrect or missing patient identification
  • Sample received in leaked, broken or non-barcoded collection tube

Understanding Your Results

The presence or absence of a pathogenic ACSL4 gene variant provides diagnostic information for X-linked mental retardation type 63. Results should always be interpreted in the context of clinical presentation and family history.
Positive: A pathogenic or likely pathogenic variant in the ACSL4 gene confirms the molecular diagnosis of MRX63.
Negative: No pathogenic variant was found; if clinical suspicion remains high, other genetic causes of intellectual disability should be considered.
Variant of uncertain significance (VUS): The variant cannot be classified as pathogenic or benign; close family segregation studies and further testing may be recommended.
⚠️ When to Consult a Doctor:

If the test result is positive or a VUS is identified, please consult a Clinical Geneticist or Neurologist for result interpretation, genetic counselling and management planning.

Limitations

  • ⚠NGS may not detect large deletions, duplications or repeat expansions involving the ACSL4 gene
  • ⚠A negative result does not exclude all genetic causes of intellectual disability
  • ⚠Variants of uncertain significance (VUS) may require additional family segregation studies

Risks & Considerations

  • ●Minor bruising at the site of blood draw
  • ●Dizziness or lightheadedness during or after venipuncture
  • ●Rare risk of local infection at the puncture site

Interfering Factors

  • ●Poor DNA quality or quantity from the sample
  • ●Contamination during sample handling
  • ●Incorrect sample labelling or patient identification
  • ●Mosaic mutations may be below the detection limit of NGS
  • ●Prior allogeneic bone marrow transplantation may interfere with detection of germline variants

Frequently Asked Questions

What is the ACSL4 gene?
The ACSL4 gene gives instructions for making long-chain acyl-CoA synthetase 4, an enzyme involved in fatty acid metabolism and normal brain development. Pathogenic changes in this gene can cause X-linked mental retardation type 63.
What is X-linked mental retardation type 63?
MRX63 is a rare genetic condition caused by mutations in the ACSL4 gene. It is characterised by intellectual disability, developmental delay, speech difficulties and behavioural problems, and it follows an X-linked pattern of inheritance.
What symptoms are associated with ACSL4 mutations?
Common symptoms include intellectual disability, delayed speech development, ADHD, autism spectrum behaviours, seizures, muscle weakness, and gait or movement abnormalities. The severity varies from person to person.
How is MRX63 diagnosed?
Diagnosis is made through clinical assessment, family history and genetic testing. NGS genetic testing helps identify disease-causing variants in the ACSL4 gene and confirm the diagnosis.
What does the ACSL4 NGS genetic test at DNA Labs India include?
The test includes targeted sequencing of the coding regions and splice sites of the ACSL4 gene using NGS technology on a blood sample, followed by clinical interpretation by a genetic specialist.
Is fasting required before the test?
No, fasting is not required for the ACSL4 NGS genetic test. The blood sample can be collected at any time of the day.
What type of sample is needed?
A whole blood sample is needed in an EDTA vacutainer. DNA Labs India provides free home sample collection for online bookings.
How much does the test cost in India?
The ACSL4 MRX63 NGS genetic test costs Rs 20,000 across India. A special discounted price is offered for online bookings.
How long will my report take?
The report is generally available in 3 to 4 weeks after the laboratory receives the sample, as NGS processing and interpretation take time.
What do the test results mean?
A positive result confirms a pathogenic ACSL4 variant; a negative result means no such variant was detected; a variant of uncertain significance may need additional family testing for interpretation.
Who should get this test?
This test is recommended for males with unexplained intellectual disability or developmental delay, for individuals with clinical suspicion of MRX63, and for at-risk female carriers in families known to have ACSL4 mutations.
Is home sample collection available in my city?
Yes, DNA Labs India offers free home sample collection in more than 150 Indian cities, including Mumbai, Delhi, Bangalore, Hyderabad, Ahmedabad, Chennai, Kolkata, Pune and many others. Please confirm your city while booking.
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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