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ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test

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ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test

Short Name: ATRX Gene NGS Test

Also known as: ATRX syndrome, Alpha-thalassemia X-linked mental retardation syndrome, X-linked mental retardation-hypotonic facies syndrome

ATRX Gene Alpha-thalassemia/mental retardation syndrome 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestMale🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

To detect pathogenic mutations in the ATRX gene for definitive diagnosis of Alpha-thalassemia/mental retardation syndrome, enabling appropriate medical management and genetic counseling.

Test Code
5649
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and undergo genetic counseling for pedigree chart analysis.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn via venipuncture, or a drop of blood may be collected on an FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to discuss family history and symptoms. No fasting is required.
2
During the Test:A blood sample is collected and sent for NGS analysis in the laboratory.
3
After the Test:Results are available online or via email/WhatsApp. Follow-up with a genetic counselor or physician is recommended.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the ATRX gene for definitive diagnosis of Alpha-thalassemia/mental retardation syndrome, enabling appropriate medical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification and labeling
  • Use sterile equipment for blood collection
  • Transport sample at ambient room temperature

Doctor's Notes

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

"Early genetic testing for ATRX syndrome is vital for accurate diagnosis, management, and family planning, especially in males with developmental delays or hematological issues."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for up to 1 week if refrigerated
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ATRX gene. Interpretation should be done by a genetic specialist.
📊

Positive

Pathogenic variant detected, confirming ATRX syndrome diagnosis

📊

Negative

No pathogenic variant detected; clinical correlation is advised if symptoms persist

📊

Variant of uncertain significance

Further testing or family studies may be required for clarification

⚠️ When to Consult a Doctor:

Consult a healthcare professional if you or your child exhibits symptoms such as developmental delays, intellectual disability, seizures, or hematological abnormalities, or if there is a family history of ATRX syndrome.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Not a substitute for comprehensive clinical evaluation

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic diagnosis

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors during sequencing

Compare With Similar Tests

TestATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic TestFragile X Syndrome Genetic TestRett Syndrome Genetic TestChromosomal Microarray Analysis
ComparisonATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test

Frequently Asked Questions

What is ATRX Gene Alpha-thalassemia/mental retardation syndrome?
It is a rare X-linked genetic disorder caused by mutations in the ATRX gene, leading to intellectual disability, developmental delays, and hematological issues like anemia.
Who should consider this genetic test?
Individuals, especially males, with symptoms such as mental retardation, developmental delays, seizures, or a family history of the syndrome.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample or extracted DNA for mutations in the ATRX gene.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the ATRX Gene NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
What do the test results mean?
A positive result indicates a pathogenic mutation in the ATRX gene, confirming the syndrome. A negative result means no mutation was detected, but clinical correlation is advised.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic diagnosis may have psychological implications, so counseling is recommended.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting gene mutations, but it may not identify all types of variants. Interpretation by a genetic specialist is essential.
What should I do after receiving the test results?
Consult a healthcare professional or genetic counselor to understand the results, discuss management options, and consider family planning if needed.
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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