HARS2 Gene Perrault Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The HARS2 Gene Perrault Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare neurological conditions. This advanced test specifically targets mutations in the HARS2 gene, which encodes mitochondrial histidyl-tRNA synthetase, a crucial enzyme involved in protein synthesis within mitochondria. Perrault syndrome type 2 is an autosomal recessive disorder characterized by progressive sensorineural hearing loss and ovarian dysfunction in females, making early detection essential for proper management and treatment planning.
What Does This Test Measure?
Our comprehensive NGS-based genetic test analyzes the entire coding region of the HARS2 gene to identify pathogenic variants responsible for Perrault syndrome type 2. The test detects:
- Point mutations and small insertions/deletions in the HARS2 gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Variants that disrupt mitochondrial protein synthesis
- Genetic markers associated with progressive hearing impairment
- Mutations linked to ovarian dysfunction and infertility
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing the following symptoms or having specific risk factors:
- Progressive sensorineural hearing loss beginning in childhood or early adulthood
- Primary or secondary amenorrhea in females
- Delayed puberty or infertility concerns
- Family history of hearing loss and reproductive issues
- Suspected mitochondrial disorders with neurological manifestations
- Unexplained neurological symptoms with hearing impairment
Key Benefits of HARS2 Genetic Testing
Undergoing the HARS2 Gene Perrault Syndrome Type 2 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of Perrault syndrome type 2
- Early Intervention: Enables timely management strategies for hearing loss and reproductive health
- Family Planning: Helps individuals make informed reproductive decisions
- Personalized Treatment: Guides healthcare providers in developing targeted management plans
- Genetic Counseling: Supports families in understanding inheritance patterns and recurrence risks
- Peace of Mind: Reduces uncertainty and provides clarity about medical condition
Understanding Your Test Results
Your HARS2 genetic test results will be carefully interpreted by our team of genetic specialists:
- Positive Result: Indicates the presence of pathogenic HARS2 mutations confirming Perrault syndrome type 2 diagnosis
- Negative Result: Suggests absence of detectable HARS2 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
All results include comprehensive genetic counseling to help you understand the implications and next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | HARS2 Gene Perrault Syndrome Type 2 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before undergoing the HARS2 genetic test, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of test implications and potential outcomes
- Review of insurance coverage and payment options
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network ensures accessible genetic testing services nationwide.
Take Control of Your Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. The HARS2 Gene Perrault Syndrome Type 2 NGS Genetic DNA Test provides the clarity you need for proper diagnosis and management. Our team of genetic specialists and neurologists are ready to support you through every step of the testing process.
Book your genetic test today by calling our dedicated healthcare line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health and making informed decisions about your future.
