HSD17B10 Gene Mental retardation, X-linked type 17 NGS Genetic Test
Short Name: HSD17B10 Gene NGS Test
Also known as: HSD17B10 Gene Sequencing, MRX17 Genetic Test, X-linked Intellectual Disability Type 17 NGS Test, HSD17B10 Mutation Analysis, HSD10 Disease Genetic Test
HSD17B10 Gene Mental retardation, X-linked type 17 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing (for confirmation if required), Bioinformatics Analysis, Variant Classification (ACMG Guidelines) 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 the date of 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 primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the HSD17B10 gene that cause X-linked type 17 mental retardation (MRX17). This test is used for diagnostic confirmation in individuals with suspected MRX17, carrier screening in females from affected families, and for genetic counseling and recurrence risk assessment. The NGS approach allows simultaneous analysis of multiple regions of the HSD17B10 gene with high sensitivity and specificity.
- Test Code
- 1703
- 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 the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing (for confirmation if required), Bioinformatics Analysis, Variant Classification (ACMG Guidelines)
Sample Collection
A Genetic Counselling session to draw a pedigree chart of family members affected with HSD17B10 Gene Mental Retardation, X-linked Type 17 disease is recommended prior to sample collection. Clinical history of the patient going for the test should be documented, including developmental milestones, behavioral concerns, seizure history, family history, and any previous genetic testing results.
Method: Venipuncture
Laboratory Analysis
A blood sample of 3-5 mL is collected via venipuncture into an EDTA (lavender top) tube. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The collection is performed by a trained phlebotomist with standard aseptic technique. Home sample collection is available across India at no additional cost.
Report Delivery
The sample is labeled, stored at ambient room temperature, and transported to the DNA Labs India laboratory under controlled conditions. The sample undergoes DNA extraction, library preparation, and NGS sequencing. Results are available within 3 to 4 weeks. A clinical report with variant interpretation is generated, along with raw data files (FASTQ, VCF) which are shared with the patient for transparency.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the HSD17B10 gene that cause X-linked type 17 mental retardation (MRX17). This test is used for diagnostic confirmation in individuals with suspected MRX17, carrier screening in females from affected families, and for genetic counseling and recurrence risk assessment. The NGS approach allows simultaneous analysis of multiple regions of the HSD17B10 gene with high sensitivity and specificity.
How to Prepare
- No fasting is required prior to sample collection
- Provide complete clinical history and family pedigree information before testing
- Ensure informed consent is obtained from the patient or legal guardian
- If using an FTA card, ensure the blood drop is fully absorbed and the card is air-dried before packaging
- If previously extracted DNA is being submitted, ensure a minimum concentration of 50 ng/uL and an A260/A280 ratio of 1.8-2.0
- Sample should be transported at ambient room temperature and received by the lab within 48 hours of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"X-linked intellectual disability conditions like MRX17 are frequently encountered in families seeking preconception and prenatal genetic counseling. Identifying HSD17B10 mutations early through NGS-based testing allows clinicians to provide accurate recurrence risk assessment, especially for carrier females, and to plan appropriate neurodevelopmental interventions. I recommend this test for families with a history of X-linked intellectual disability and for males presenting with unexplained developmental delay, seizures, and characteristic dysmorphic features. Timely genetic diagnosis also facilitates informed reproductive decision-making for at-risk couples."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Sample collected in incorrect tube type (non-EDTA)
- Insufficient sample volume
- Unlabeled or mismatched sample identification
- Contaminated or leaking sample container
Understanding Your Results
A known disease-causing mutation in the HSD17B10 gene was identified. This confirms the genetic diagnosis of X-linked type 17 mental retardation (MRX17). Genetic counseling is recommended for the patient and family members.
A variant with strong evidence of disease causality was identified. Clinical correlation and family studies are recommended to strengthen the diagnostic conclusion.
A variant was identified that currently has insufficient evidence to determine its role in disease. Further testing of family members, functional studies, and longitudinal clinical follow-up may help clarify its significance.
A variant was identified that is unlikely to cause disease based on available evidence. Clinical correlation is advised.
No disease-causing mutations were identified in the HSD17B10 gene. This does not completely exclude a genetic cause for the patient's condition, as mutations in other genes or structural variants not detectable by this method may be responsible. Additional genetic testing may be considered.
Consult your healthcare provider or genetic counselor if you have a family history of X-linked intellectual disability, if your child shows developmental delays, unexplained seizures, behavioral abnormalities, or dysmorphic features, or if you are a female with a known family history of HSD17B10 mutations and are planning a pregnancy. Genetic counseling is strongly recommended both before and after testing.
Limitations
- ⚠This test targets only the HSD17B10 gene and does not screen for mutations in other genes associated with intellectual disability
- ⚠Large deletions or duplications involving the HSD17B10 gene or the entire X chromosome may not be detected by NGS alone and may require additional testing such as chromosomal microarray (CMA)
- ⚠Deep intronic variants and regulatory region mutations outside the targeted region may not be captured
- ⚠Variants of uncertain significance (VUS) may be identified, requiring further clinical correlation and family studies
- ⚠Results should always be interpreted in the context of clinical findings and family history by a qualified healthcare professional
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Possible identification of variants of uncertain significance (VUS) which may cause anxiety
- ●Potential psychological impact of a positive diagnosis on the patient and family
- ●Risk of misinterpretation if results are not reviewed by a qualified geneticist
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing coverage
- ●Blood sample contaminated or improperly stored may yield unreliable results
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Co-existing chromosomal abnormalities may complicate interpretation
Compare With Similar Tests
| Test | HSD17B10 Gene Mental retardation, X-linked type 17 NGS Genetic Test | Fragile X Syndrome (FMR1 Gene) Test | MECP2 Gene Test (Rett Syndrome) | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | HSD17B10 Gene Mental retardation, X-linked type 17 NGS Genetic Test | Fragile X syndrome is the most common inherited cause of intellectual disability. While MRX17 is caused by HSD17B10 mutations, Fragile X is caused by CGG trinucleotide repeat expansion in the FMR1 gene. Different testing methodologies (repeat-primed PCR for Fragile X vs. NGS for MRX17) are used. | MECP2 gene mutations cause Rett syndrome, which also presents with intellectual disability and seizures, predominantly in females. MRX17 primarily affects males due to X-linked inheritance. NGS is used for both, but different genes are targeted. | CMA detects large chromosomal deletions and duplications genome-wide but cannot identify point mutations. The HSD17B10 NGS test specifically detects sequence-level variants in a single gene. CMA may be recommended as a first-tier test for unexplained intellectual disability, with targeted gene sequencing as a follow-up. | WES analyzes the coding regions of all ~20,000 genes simultaneously and may identify variants in genes not initially suspected. The HSD17B10 targeted test is more focused and cost-effective when there is a strong clinical suspicion of MRX17. WES may be considered when targeted testing is negative or when the clinical picture is non-specific. |
Frequently Asked Questions
What is the HSD17B10 gene and what does it do?
What is X-linked type 17 mental retardation (MRX17)?
Who should consider getting the HSD17B10 gene NGS genetic test?
What sample is required for this genetic test?
How long does it take to get the results?
Is genetic counseling required before taking this test?
Can this test be performed during pregnancy for prenatal diagnosis?
What happens if a pathogenic mutation is found?
Can females be affected by HSD17B10 gene mutations?
What raw data files are provided with the test report?
Is this test covered by health insurance or government schemes in India?
Is the NGS genetic test for HSD17B10 accurate and reliable?
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