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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: ATR-X Syndrome Genetic Test, ATRX Gene Sequencing, Alpha Thalassemia X-Linked Mental Retardation Syndrome Test

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 Reports are typically available within 3 to 4 weeks (21-28 days) after sample receipt.. 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 7, 2026

Overview

The purpose of this test is to detect mutations in the ATRX gene that are associated with Alpha-thalassemia/mental retardation syndrome (ATR-X). It helps confirm a clinical diagnosis, guide medical management, and identify carriers in at-risk families.

Test Code
3862
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks (21-28 days) after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Discuss the test with a genetic counselor, understand the potential implications, and sign informed consent. No special preparation or fasting is needed.

Method: Venipuncture or heel/finger stick for FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect a peripheral blood sample. If providing an FTA card, a drop of blood from a finger or heel prick may be applied.

Step 3

Report Delivery

You will receive your report via online portal, email, or WhatsApp. Schedule a post-test counseling session with a genetic counselor to discuss results and further management.

Timeline: Reports are typically available within 3 to 4 weeks (21-28 days) after sample receipt.

Patient Instructions

1
Before the Test:Discuss the test with a genetic counselor, understand the potential implications, and sign informed consent. No special preparation is needed.
2
During the Test:A trained phlebotomist will collect a peripheral blood sample. If providing an FTA card, a drop of blood from a finger or heel prick may be applied.
3
After the Test:You will receive your report via online portal, email, or WhatsApp. Schedule a post-test counseling session with a genetic counselor to discuss results and further management.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the ATRX gene that are associated with Alpha-thalassemia/mental retardation syndrome (ATR-X). It helps confirm a clinical diagnosis, guide medical management, and identify carriers in at-risk families.

How to Prepare

  • No special preparation or fasting required.
  • Inform your physician about current medications and supplements.
  • For FTA card collection, allow the blood spot to dry completely before packaging.

Doctor's Notes

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

"ATR-X syndrome requires a high index of suspicion. Early genetic confirmation through ATRX gene sequencing can guide management and family planning decisions. Our multidisciplinary approach ensures results are interpreted with clinical context."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL whole blood or 2-5 μg extracted DNA or one spot on FTA card
ContainerEDTA vacutainer, DNA extraction tube, or FTA card
Collection MethodVenipuncture or heel/finger stick for FTA card

Sample Stability

Whole blood in EDTA: 24-72 hours at 2-8°C
Extracted DNA: stable for months at -20°C
FTA card: stable for years at ambient temperature
Sample Rejection Criteria:
  • Hemolyzed blood samples
  • Improper labeling
  • Samples received after prolonged transport at ambient temperature without cold storage
  • FTA blood spots that are wet or incomplete

Understanding Your Results

Results are interpreted by clinical geneticists in the context of clinical findings and family history. Variants are classified according to ACMG-AMP guidelines.
📊

Positive

Pathogenic/likely pathogenic variant identified in ATRX gene; consistent with ATR-X syndrome in males.

📊

Negative

No pathogenic variants identified in the ATRX gene. Does not exclude ATR-X if strong clinical suspicion persists.

📊

Variant of Uncertain Significance (VUS)

A DNA change was found; medical significance unknown. Further studies may help clarify.

📊

Carrier

Heterozygous female for ATRX pathogenic variant; carrier status with a 50% risk of transmitting the variant to offspring.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist if you or your child has unexplained intellectual disability, developmental delay, alpha-thalassemia with unusual features, specific facial dysmorphism, or a family history of ATR-X syndrome. Genetic counseling before and after testing is recommended.

Limitations

  • ⚠NGS may miss certain large deletions, duplications, repeat expansions, and deep intronic variants.
  • ⚠Only the ATRX gene coding exons and flanking splice sites were analyzed; regulatory regions are not routinely assessed.
  • ⚠Mosaic mutations may not be detected at low allele frequencies.
  • ⚠Results should be interpreted in context of clinical phenotype and family history.

Risks & Considerations

  • ●Mild pain or bruising at the venipuncture site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Maternal cell contamination in prenatal samples
  • ●Presence of pseudogenes causing ambiguous mapping
  • ●Incomplete coverage of GC-rich regions due to sequencing chemistry

Compare With Similar Tests

TestATRX Gene Alpha-Thalassemia/Mental Retardation Syndrome NGS Genetic Test
ComparisonATRX Gene Alpha-Thalassemia/Mental Retardation Syndrome NGS Genetic Test

Frequently Asked Questions

What is the ATRX gene test?
This test uses next-generation sequencing to detect mutations in the ATRX gene associated with alpha-thalassemia/mental retardation syndrome (ATR-X).
Who should consider this genetic test?
Individuals with clinical features suggestive of ATR-X syndrome, such as intellectual disability, characteristic facial features, alpha-thalassemia, urogenital abnormalities, or a positive family history.
What is the cost of the ATRX NGS test in India?
The test costs Rs 20000 at DNA Labs India, which includes free home sample collection and an interpretative report by clinical geneticists.
What type of sample is needed for the test?
Blood in an EDTA vacutainer, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before sample collection?
No, this genetic test does not require fasting or any special preparation.
How long will it take to get my results?
Laboratories at DNA Labs India usually release reports within 3 to 4 weeks after receiving the sample.
Does this test detect all ATRX mutations?
NGS can detect most small sequence variants in the coding regions and flanking splice sites. Large deletions/duplications may require additional analysis such as MLPA or CMA.
Is the test covered by medical insurance?
Coverage depends on your insurance provider. DNA Labs India accepts self-payment for this test and helps provide documentation for reimbursement.
Can this test be done for prenatal diagnosis?
Prenatal testing for ATR-X syndrome is possible using fetal DNA samples after consultation with a medical geneticist and genetic counselor; specific counselling is required.
What does a negative result mean?
A negative result means no pathogenic variants were identified in the ATRX gene. However, it does not completely exclude ATR-X syndrome if clinical suspicion is high; further testing may be considered.
What should I do if I receive a variant of uncertain significance (VUS)?
A VUS result means the impact of the variant is unclear. Your genetic counselor may recommend family studies or additional functional testing to clarify its significance.
How will I receive my test report?
Reports are delivered through the DNA Labs India patient portal, email, and WhatsApp. You can also download them from your online account.
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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