HUWE1 Gene Mental retardation, X-linked syndromic, Turner type NGS Genetic Test
Short Name: HUWE1 NGS Test
Also known as: HUWE1 gene mutation test, X-linked mental retardation Turner type genetic test, HUWE1 sequencing
HUWE1 Gene Mental retardation, X-linked syndromic, Turner type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to identify mutations in the HUWE1 gene that cause X-linked syndromic intellectual disability (Turner type). It aids in establishing a molecular diagnosis, differentiating from other intellectual disability syndromes, and enabling carrier testing and prenatal diagnosis in affected families.
- Test Code
- 5841
- CPT Code
- 81407
- ICD Code
- F70.9
- 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 after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger confirmation
Sample Collection
No special preparation required. However, a genetic counseling session is recommended prior to testing to discuss implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is drawn by a trained phlebotomist. For FTA card, a few drops of blood are spotted.
Report Delivery
No restrictions. Patient can resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the HUWE1 gene that cause X-linked syndromic intellectual disability (Turner type). It aids in establishing a molecular diagnosis, differentiating from other intellectual disability syndromes, and enabling carrier testing and prenatal diagnosis in affected families.
How to Prepare
- Use EDTA vacutainer for blood collection
- For FTA card, ensure proper drying and labeling
- Transport samples at ambient temperature
- Avoid hemolysis
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of HUWE1 mutations is crucial for appropriate management and family counseling. This NGS test provides definitive results to guide clinical decisions."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient quantity
- Improper labeling
Understanding Your Results
Positive
Pathogenic variant detected. Confirms diagnosis of HUWE1-related intellectual disability. Genetic counseling recommended.
Negative
No pathogenic variant found. Does not rule out other genetic causes; further testing may be considered.
VUS
Variant of uncertain significance. Additional family testing may help clarify pathogenicity.
Consult a clinical geneticist or pediatric neurologist if the test result is positive or if you have concerns about intellectual disability in your child.
Limitations
- ⚠This test does not detect large deletions/duplications or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Not a whole genome sequencing test; only HUWE1 gene is analyzed
Risks & Considerations
- ●Minimal risk of bruising at blood draw site
- ●Psychological impact of genetic results
- ●Potential for VUS results causing uncertainty
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
Compare With Similar Tests
| Test | HUWE1 Gene Mental retardation, X-linked syndromic, Turner type NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Targeted HUWE1 Sanger Sequencing |
|---|---|---|---|---|
| Comparison | HUWE1 Gene Mental retardation, X-linked syndromic, Turner type NGS Genetic Test |
Frequently Asked Questions
What is the cost of the HUWE1 gene NGS genetic test?
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How long does it take to get results?
Is fasting required before the test?
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₹20,000Reference 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.
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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