HUWE1 Gene Mental retardation, X-linked syndromic, Turner type NGS Genetic Test
Short Name: HUWE1 Gene Mental Retardation Test
Also known as: X-linked syndromic mental retardation Turner type, HUWE1-related intellectual disability, Turner-type mental retardation
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) 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.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To identify pathogenic mutations in the HUWE1 gene for accurate diagnosis of mental retardation, X-linked syndromic, Turner type, enabling appropriate management and genetic counseling.
- Test Code
- 1692
- 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)
Sample Collection
Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with the disorder.
Method: Venipuncture or DNA extraction
Laboratory Analysis
Blood draw via venipuncture or DNA extraction from provided sample, following sterile procedures.
Report Delivery
Apply pressure to the venipuncture site if blood was drawn; handle FTA card appropriately if used.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the HUWE1 gene for accurate diagnosis of mental retardation, X-linked syndromic, Turner type, enabling appropriate management and genetic counseling.
How to Prepare
- Ensure proper patient identification and labeling
- Use sterile equipment for blood collection
- For FTA card, use one drop of blood and air-dry
- Store samples at ambient room temperature until processing
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for early diagnosis and management of HUWE1-related disorders, enabling targeted interventions such as speech therapy and seizure management to improve patient outcomes and quality of life."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
- Samples older than stability period
Understanding Your Results
Positive
Pathogenic variant detected in HUWE1 gene, confirming diagnosis of mental retardation, X-linked syndromic, Turner type.
Negative
No pathogenic variants detected, but clinical symptoms may require further testing or evaluation.
Variant of Uncertain Significance
A genetic variant was found, but its clinical significance is unknown; additional family studies or functional tests may be needed.
If the patient exhibits symptoms such as intellectual disability, seizures, delayed development, or distinctive facial features, or if there is a family history of X-linked mental retardation disorders.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Limited to known variants in the HUWE1 gene
- ⚠Results require clinical correlation and genetic counseling
Risks & Considerations
- ●Slight pain or bruising at the blood draw site
- ●Minimal risk of infection
- ●No significant risks for genetic testing itself
Interfering Factors
- ●DNA quality degradation
- ●Sample contamination
- ●Technical errors during sequencing
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | HUWE1 Gene Mental retardation, X-linked syndromic, Turner type NGS Genetic Test | FMR1 Gene Test for Fragile X Syndrome | MECP2 Gene Test for Rett Syndrome | CDKL5 Gene Test for Epileptic Encephalopathy | SLC6A1 Gene Test for Autism Spectrum Disorder |
|---|---|---|---|---|---|
| Comparison | HUWE1 Gene Mental retardation, X-linked syndromic, Turner type NGS Genetic Test |
Frequently Asked Questions
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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.
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