ATRX Gene Mental retardation with hypotonic facies syndrome, X-linked NGS Genetic Test
Short Name: ATRX Gene NGS Test
Also known as: Alpha-Thalassemia X-linked Intellectual Disability Syndrome, ATR-X Syndrome, ATRX Gene Mutation Test, X-linked Mental Retardation with Hypotonic Facies NGS Test, Juberg-Marsidi Syndrome
ATRX Gene Mental retardation with hypotonic facies syndrome, X-linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatic Variant Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the ATRX Gene X-Linked NGS Genetic Test is to identify pathogenic mutations in the ATRX gene responsible for X-linked mental retardation with hypotonic facies syndrome. This test enables definitive molecular diagnosis, differentiation from other causes of intellectual disability, carrier detection in female relatives, accurate genetic counseling for family planning, and informed clinical management of the condition and its associated complications.
- Test Code
- 1677
- CPT Code
- 81479
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatic Variant Analysis
Sample Collection
A pre-test genetic counseling session is recommended to draw a pedigree chart of family members affected with ATRX Gene Mental Retardation with Hypotonic Facies Syndrome, X-linked. Provide complete clinical history of the patient including developmental milestones, seizure history, hematological findings, and family history.
Method: Venipuncture
Laboratory Analysis
A peripheral blood sample of 3–5 mL is collected via venipuncture into an EDTA (lavender-top) vacutainer. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. Standard phlebotomy protocols should be followed.
Report Delivery
Label the sample accurately with patient details and transport at ambient room temperature to the laboratory. Results will be available within 3 to 4 weeks and will be delivered via the online portal, email, and WhatsApp.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ATRX Gene X-Linked NGS Genetic Test is to identify pathogenic mutations in the ATRX gene responsible for X-linked mental retardation with hypotonic facies syndrome. This test enables definitive molecular diagnosis, differentiation from other causes of intellectual disability, carrier detection in female relatives, accurate genetic counseling for family planning, and informed clinical management of the condition and its associated complications.
How to Prepare
- Ensure proper patient identification and labeling of the sample
- Collect 3–5 mL of peripheral venous blood in an EDTA (lavender-top) vacutainer
- Alternatively, one drop of blood on an FTA card is acceptable
- Previously extracted DNA (minimum 50 ng/µL, A260/A280 ratio 1.8–2.0) may also be submitted
- Transport the sample at ambient room temperature; avoid extreme heat or cold
- Provide complete clinical history and family pedigree information along with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"ATRX syndrome is an under-recognized cause of X-linked intellectual disability. Early genetic diagnosis through NGS testing enables accurate prognosis, targeted management of associated complications such as seizures and alpha-thalassemia, and informed family counseling. I recommend this test for any male patient presenting with unexplained intellectual disability and characteristic hypotonic facial features, particularly when there is a maternal family history suggestive of X-linked inheritance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume (less than 1 mL)
- Improperly labeled or unlabeled samples
- Samples received without clinical history or patient consent documentation
- Contaminated or degraded DNA samples (A260/A280 ratio outside 1.6–2.2 range)
Understanding Your Results
Pathogenic Variant Detected
A known disease-causing mutation in the ATRX gene was identified. This confirms the molecular diagnosis of ATRX syndrome in a clinically affected male. Genetic counseling and targeted management are recommended.
Likely Pathogenic Variant Detected
A variant likely to cause disease was found. Clinical correlation is advised, and follow-up studies or family segregation analysis may help confirm pathogenicity.
Variant of Uncertain Significance (VUS)
A variant was identified whose clinical significance cannot be determined at this time. Further testing of family members, functional studies, or periodic reclassification may be required.
Likely Benign Variant Detected
A variant likely to be non-disease-causing was found. This is generally not considered responsible for the patient's clinical presentation.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the ATRX gene. This does not fully exclude ATRX syndrome if large deletions or deep intronic variants are suspected, nor does it exclude other genetic causes of the patient's condition. Clinical correlation and further diagnostic evaluation are recommended.
Carrier Status (Females)
A heterozygous pathogenic variant in the ATRX gene was detected in a female individual, indicating carrier status. Carriers may have mild or no clinical features but have a 50% chance of passing the mutation to each offspring. Genetic counseling is recommended.
Consult a neurologist or clinical geneticist if the test reveals a pathogenic or likely pathogenic ATRX gene variant. A multidisciplinary approach involving neurology, hematology, endocrinology, and genetic counseling is recommended for comprehensive management. Consult your doctor immediately if the affected individual experiences new-onset seizures, worsening developmental regression, or signs of hematological complications related to alpha-thalassemia.
Limitations
- ⚠This test may not detect large structural rearrangements, deep intronic variants, or regulatory region mutations outside the targeted sequencing panel
- ⚠Variants of uncertain significance (VUS) may be identified that cannot be definitively classified as pathogenic or benign at the time of reporting
- ⚠Mosaicism at low levels may not be reliably detected by standard NGS methodology
- ⚠A negative result does not completely exclude other genetic causes of the patient's clinical presentation
Risks & Considerations
- ●Blood collection may cause minor discomfort, bruising, or very rarely infection at the venipuncture site
- ●Genetic test results may cause emotional distress or anxiety; genetic counseling is provided to support patients and families
- ●Identification of variants of uncertain significance may create diagnostic uncertainty requiring further investigation
Interfering Factors
- ●Hemolyzed or degraded DNA samples may produce suboptimal sequencing quality
- ●Recent blood transfusion may affect DNA analysis results
- ●Low-quality or insufficient DNA concentration may require repeat sample collection
- ●Presence of pseudogenes or homologous sequences may complicate variant calling in certain regions
Compare With Similar Tests
| Test | ATRX Gene Mental retardation with hypotonic facies syndrome, X-linked NGS Genetic Test | Fragile X Syndrome (FMR1) Genetic Test | MECP2 Gene Sequencing (Rett Syndrome) | Intellectual Disability NGS Panel | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|---|
| Comparison | ATRX Gene Mental retardation with hypotonic facies syndrome, X-linked NGS Genetic Test | Fragile X syndrome is the most common inherited cause of intellectual disability, caused by CGG trinucleotide repeat expansion in the FMR1 gene. It uses a different detection method (PCR/Southern blot) and presents with distinct features such as macroorchidism and prominent ears. | MECP2 mutations cause Rett syndrome, which predominantly affects females and involves regression of acquired skills. Unlike ATRX syndrome, Rett syndrome features characteristic hand-wringing movements and loss of purposeful hand skills. | A comprehensive multi-gene panel analyzing numerous genes associated with intellectual disability simultaneously. This broader approach is useful when the specific genetic etiology is unclear, but individual gene analysis depth may be less than targeted single-gene NGS testing. | CMA detects copy number variants (deletions/duplications) across the entire genome. It is a first-line test for intellectual disability but may miss point mutations in the ATRX gene that are detectable by NGS. | WES analyzes the protein-coding regions of all ~20,000 genes simultaneously. It is a comprehensive option when targeted gene testing and panels are inconclusive, but is more expensive and may produce more variants of uncertain significance. |
Frequently Asked Questions
What is ATRX Gene Mental Retardation with Hypotonic Facies Syndrome?
How is the ATRX Gene X-Linked NGS Genetic Test performed?
What sample is required for the ATRX Gene NGS Genetic Test?
Who should undergo the ATRX Gene Genetic Test?
What is the cost of the ATRX Gene X-Linked NGS Genetic Test in India?
How long does it take to receive the test results?
Is ATRX Gene Mental Retardation with Hypotonic Facies Syndrome hereditary?
Can carrier females be identified through this test?
Is genetic counseling recommended before and after the test?
What treatment options are available after a diagnosis of ATRX syndrome?
Is home sample collection available for the ATRX Gene NGS Genetic Test?
Can this test detect all types of ATRX gene mutations?
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