12S rRNA Sequencing: Comprehensive Mitochondrial DNA Analysis
Understanding 12S rRNA Sequencing
12S rRNA Sequencing is a sophisticated genetic diagnostic test that specifically targets the mitochondrial 12S ribosomal RNA gene. This gene plays a crucial role in mitochondrial protein synthesis and is essential for proper cellular energy production. Mitochondrial DNA mutations in the 12S rRNA gene have been strongly associated with various genetic conditions, particularly sensorineural hearing loss and mitochondrial disorders.
The importance of this test lies in its ability to detect specific mitochondrial mutations that conventional genetic testing might miss. Since mitochondrial DNA is inherited maternally, this test provides valuable information about inherited genetic conditions that can affect multiple generations within a family.
What the Test Measures and Detects
The 12S rRNA Sequencing test provides comprehensive analysis of:
- Complete sequencing of the mitochondrial 12S ribosomal RNA gene
- Detection of point mutations and small insertions/deletions
- Identification of known pathogenic variants associated with hearing loss
- Analysis of heteroplasmy levels in mitochondrial DNA
- Assessment of mitochondrial genome stability
This test specifically targets mutations such as A1555G, C1494T, and other clinically significant variants that have been linked to aminoglycoside-induced and non-syndromic hearing loss. The comprehensive nature of this sequencing ensures that both known and novel mutations can be identified.
Who Should Consider This Test
Clinical Indications and Symptoms
This test is recommended for individuals experiencing:
- Progressive sensorineural hearing loss, especially with early onset
- Family history of maternally inherited hearing impairment
- History of aminoglycoside antibiotic exposure with subsequent hearing loss
- Unexplained neurological symptoms suggesting mitochondrial dysfunction
- Multiple family members with similar hearing or neurological conditions
- Suspected mitochondrial disease with auditory involvement
High-Risk Populations
- Individuals with family history of mitochondrial disorders
- Patients scheduled for aminoglycoside antibiotic treatment
- Children with unexplained progressive hearing loss
- Individuals with syndromic features suggesting mitochondrial disease
Benefits of 12S rRNA Sequencing
Undergoing 12S rRNA Sequencing offers numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of mitochondrial mutations
- Family Planning: Enables informed reproductive decisions for at-risk families
- Preventive Care: Identifies susceptibility to aminoglycoside-induced hearing loss
- Treatment Guidance: Informs appropriate medical management strategies
- Early Intervention: Facilitates timely interventions for better outcomes
- Comprehensive Analysis: Offers complete sequencing rather than targeted mutation analysis
Understanding Your Test Results
Interpretation Guidelines
Your 12S rRNA Sequencing results will fall into one of several categories:
Normal Results
No pathogenic mutations detected in the 12S rRNA gene. This significantly reduces the likelihood of mitochondrial-related hearing loss associated with this specific gene, though other genetic or environmental factors should still be considered.
Pathogenic Mutation Detected
Identification of known disease-causing mutations indicates increased risk for associated conditions. Genetic counseling is strongly recommended to understand implications for you and family members.
Variant of Uncertain Significance (VUS)
Some genetic changes may have unknown clinical significance. These findings require careful interpretation by genetic specialists and may warrant additional family studies.
Carrier Status
Detection of mitochondrial mutations indicates carrier status that can be passed to offspring through maternal inheritance patterns.
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| 12S rRNA Sequencing | $140 USD | $200 USD |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures accessible genetic testing services regardless of your location.
Book Your Test Today
Take the first step toward understanding your genetic health. Our experienced genetic counselors and medical professionals are ready to assist you with comprehensive 12S rRNA Sequencing testing.
Call or WhatsApp: +1(267) 388-9828
Schedule your appointment today to benefit from our current promotional pricing and receive your results within the standard 2-week turnaround time. Our team will guide you through the entire process, from sample collection to result interpretation and genetic counseling.
Don’t wait to gain valuable insights into your mitochondrial health. Contact us now to book your 12S rRNA Sequencing test and take control of your genetic future.
