HSD17B10 Gene 17-Beta Hydroxysteroid Dehydrogenase X Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The HSD17B10 Gene 17-Beta Hydroxysteroid Dehydrogenase X Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the HSD17B10 gene, which encodes the 17-beta hydroxysteroid dehydrogenase type 10 enzyme. This enzyme plays a vital role in steroid metabolism and mitochondrial function, making it essential for normal cellular processes throughout the body.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets the HSD17B10 gene to identify pathogenic variants associated with 17-beta hydroxysteroid dehydrogenase X deficiency. This condition represents a rare inborn error of metabolism that can manifest with diverse clinical presentations affecting multiple organ systems.
- Detection of point mutations, insertions, and deletions in the HSD17B10 gene
- Identification of variants affecting enzyme function and mitochondrial activity
- Analysis of genetic changes impacting steroid hormone metabolism
- Assessment of mutations linked to neurological and metabolic dysfunction
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of HSD17B10 deficiency or those with a family history of related metabolic disorders.
Clinical Indications and Symptoms
- Unexplained developmental delays in infancy or childhood
- Progressive neurological deterioration
- Metabolic acidosis or recurrent metabolic crises
- Liver dysfunction without clear etiology
- Endocrine abnormalities affecting growth and development
- Family history of similar metabolic disorders
- Unexplained renal tubular dysfunction
- Abnormal steroid hormone profiles
Significant Benefits of Genetic Testing
Undergoing the HSD17B10 Gene Deficiency Test provides numerous advantages for patients and healthcare providers alike.
Key Patient Benefits
- Accurate Diagnosis: Provides definitive genetic confirmation of HSD17B10 deficiency
- Personalized Treatment: Enables targeted therapeutic interventions based on specific genetic findings
- Family Planning: Offers valuable information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to optimize outcomes
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed information about your HSD17B10 gene status, with results typically available within 3-4 weeks.
Result Interpretation Guidance
- Positive Result: Indicates the presence of pathogenic variants in the HSD17B10 gene, confirming the diagnosis of 17-beta hydroxysteroid dehydrogenase X deficiency
- Negative Result: Suggests no disease-causing mutations were detected in the analyzed gene regions
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene
All results are accompanied by detailed interpretation from our board-certified genetic specialists and recommendations for appropriate follow-up care.
Test Pricing and Sample Requirements
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | HSD17B10 Gene 17-Beta Hydroxysteroid Dehydrogenase X Deficiency NGS Genetic DNA Test | – |
| Discount Price | Special promotional rate | $500 |
| Regular Price | Standard testing fee | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card | – |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection facilities ensures accessible testing for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic metabolic disorders impact your health decisions. Our specialized HSD17B10 Gene Deficiency Test provides the clarity needed for informed medical management and personalized care planning.
Schedule your genetic consultation and testing today by calling our dedicated genetics team at +1(267) 388-9828 or book your appointment online through our secure patient portal.
Our experienced genetic counselors are available to discuss your testing options, explain the process in detail, and help you understand how genetic testing can benefit your specific health situation. Take control of your genetic health with confidence and precision.
