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ARX Gene Mental retardation, X-linked type 29 NGS Genetic Test

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ARX Gene Mental retardation, X-linked type 29 NGS Genetic Test

Short Name: ARX Gene NGS Test

Also known as: MRX29, ARX-Related Intellectual Disability, X-linked Intellectual Disability Type 29, ARX Gene Mutation Analysis

ARX Gene Mental retardation, X-linked type 29 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 typically delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 variants in the ARX gene that cause X-linked mental retardation type 29 and to enable a precise molecular diagnosis, guide clinical management, and provide information for genetic counselling and recurrence risk assessment.

Test Code
4268
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Please carry any previous medical records, diagnostic reports, or a referral note from a physician, if available.

Method: Venipuncture or FTA Spot

Step 2

Laboratory Analysis

The sample is collected by a trained phlebotomist. If using the FTA card, one drop of blood from a finger prick is sufficient.

Step 3

Report Delivery

No specific restrictions after sample collection. Resume normal activity.

Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Before the ARX gene test, a genetic counselling session is conducted to draw a family pedigree and discuss the risks, benefits and limitations of NGS genetic testing.
2
During the Test:A sample of peripheral blood, extracted DNA, or a dried blood spot on FTA card is obtained. The laboratory purifies DNA and performs next-generation sequencing of the ARX gene.
3
After the Test:A genetic counsellor will explain the report and its significance. This may include a plan for surveillance, early intervention, and family testing.

About This Test

Who Should Get This Test

To identify pathogenic variants in the ARX gene that cause X-linked mental retardation type 29 and to enable a precise molecular diagnosis, guide clinical management, and provide information for genetic counselling and recurrence risk assessment.

How to Prepare

  • For venipuncture, the site is cleaned with antiseptic and blood is drawn into an EDTA tube.
  • For FTA card collection, one drop of blood is applied to the designated circles and allowed to air dry.
  • Ensure the sample is correctly labelled with patient name, date, and time of collection.
  • The sample may be transported at room temperature.

Doctor's Notes

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

"Genetic counselling is essential before and after ARX gene testing to explain the inheritance pattern, recurrence risk and reproductive options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or FTA Spot

Sample Stability

Whole blood in EDTA: 7 days at room temperature, 14 days at 2-8°C.
Extracted DNA: 12 months at -20°C.
FTA card: Stable for several months at room temperature.
Sample Rejection Criteria:
  • Haemolysed blood sample
  • Clotted blood in anticoagulant tube (if EDTA not mixed)
  • Mislabeled or unlabeled sample
  • Improperly stored sample (left in direct sunlight or extreme heat)

Understanding Your Results

Results of the ARX gene NGS test should be interpreted by a clinical geneticist in the context of the patient's clinical presentation, family history and other laboratory findings.
Positive for a pathogenic/likely pathogenic ARX variant: Confirms the diagnosis of ARX-related intellectual disability type 29. Genetic counselling and family testing are recommended.
Negative for pathogenic variants: Does not completely exclude ARX-related disorder, but reduces the likelihood. Consider other genetic causes and expanded testing.
Variant of uncertain significance (VUS): Further segregation analysis and functional studies may be needed. Clinical correlation and reclassification are required.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist if the child or family member shows developmental delay, seizures, or unusual movements. Also consult for inherited intellectual disability recurrence risk assessment and family planning.

Limitations

  • ⚠This test does not detect mutations in genes other than ARX.
  • ⚠Deep intronic variants, promoter variants, and structural rearrangements may not be identified.
  • ⚠A negative result does not rule out a genetic cause other than ARX-related intellectual disability.
  • ⚠Variant classification may require additional family member testing to determine significance.

Risks & Considerations

  • ●There are no significant physical risks from a simple blood draw other than slight pain or bruising at the puncture site.
  • ●The test may uncover unexpected genetic findings or variants of uncertain significance that may cause anxiety.
  • ●Parents or relatives may learn about carrier status, which could affect family dynamics.

Interfering Factors

  • ●Presence of the patient after a recent blood transfusion may contaminate the sample with donor DNA.
  • ●Highly degraded DNA samples may affect sequencing quality.
  • ●Mosaic variants may be below the detection limit of NGS.
  • ●Large deletions/duplications involving one or more exons may not be reliably detected by NGS alone.

Compare With Similar Tests

TestARX Gene Mental retardation, X-linked type 29 NGS Genetic Test
ComparisonARX Gene Mental retardation, X-linked type 29 NGS Genetic Test

Frequently Asked Questions

What is the ARX Gene Mental Retardation, X-linked Type 29 NGS Genetic Test?
It is a next-generation sequencing test that looks for mutations in the ARX gene, which are responsible for a type of X-linked intellectual disability known as type 29.
Who should undergo this test?
People with intellectual disability, seizures, abnormal muscle tone, or speech and language problems that suggest an X-linked cause should consider this test. It is also offered to at-risk family members of affected individuals.
How is the sample collected?
The sample can be collected as blood in an EDTA tube, as extracted DNA, or as one drop of blood on an FTA card. A free home sample collection is available with online booking.
What is the cost of the test?
The test costs Rs 20,000 in India, which includes the NGS analysis and free home sample collection.
How long does the test take to produce results?
Reports are typically available within 3 to 4 weeks from sample receipt.
Is fasting required before blood collection?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
What does a positive ARX gene mutation result mean?
A positive result means a pathogenic variant in the ARX gene has been found, confirming the diagnosis of ARX-related X-linked intellectual disability type 29.
Can a negative result completely rule out ARX gene related disease?
A negative result significantly reduces the chance of ARX-related disease, but it does not completely rule out unusual variants such as large deletions or deep intronic mutations that may not be covered by NGS.
What is the inheritance pattern of ARX-related intellectual disability?
It is inherited in an X-linked manner, meaning the mutated gene is located on the X chromosome. Males are usually more severely affected, while females may be carriers and can show milder symptoms.
Is genetic counselling recommended with this test?
Yes, genetic counselling is highly recommended before and after the test. Our package includes a counselling session to draw a pedigree and interpret the results.
Will this test detect all types of mutations in the ARX gene?
This NGS test detects single-nucleotide variants and small insertions/deletions across the coding region and splice sites. It does not routinely detect large gene rearrangements, which may require other methods.
Can the test be done on a stored DNA sample?
Yes, the test can be performed on extracted DNA. Please contact the laboratory for specific sample requirements.
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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