MKS1 Gene Bardet-Biedl Syndrome Type 13 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Multisystem Disorders
The MKS1 Gene Bardet-Biedl Syndrome Type 13 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited conditions. This advanced test specifically targets mutations in the MKS1 gene, which plays a crucial role in ciliary function and cellular development. Bardet-Biedl syndrome type 13 is a complex autosomal recessive disorder characterized by multiple organ system involvement, making accurate genetic diagnosis essential for proper medical management and family planning.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test analyzes the complete coding region of the MKS1 gene to identify:
- Pathogenic variants and mutations in the MKS1 gene
- Single nucleotide polymorphisms (SNPs) associated with Bardet-Biedl syndrome
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations
- Novel genetic variants with potential clinical significance
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing unparalleled accuracy in detecting even the most subtle genetic alterations that conventional methods might miss.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Vision abnormalities: Retinal dystrophy, night blindness, or progressive vision loss
- Renal complications: Kidney abnormalities, renal cysts, or impaired kidney function
- Endocrine disorders: Obesity, diabetes mellitus, or hormonal imbalances
- Developmental concerns: Intellectual disability, learning difficulties, or delayed milestones
- Physical characteristics: Polydactyly (extra fingers or toes), brachydactyly, or dental anomalies
- Family history: Known cases of Bardet-Biedl syndrome or consanguineous parents
Significant Benefits of Genetic Testing
Undergoing the MKS1 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Bardet-Biedl syndrome type 13 with high precision
- Personalized Treatment: Enables targeted management strategies for affected organ systems
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive monitoring and management of potential complications
- Peace of Mind: Reduces diagnostic uncertainty and provides clarity for medical management
- Research Contribution: Helps advance understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations in the MKS1 gene, confirming Bardet-Biedl syndrome type 13 diagnosis
- Negative Result: Suggests no detectable mutations in the MKS1 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with one mutated copy who may pass the condition to offspring
All results are accompanied by detailed explanations and recommendations for follow-up care. Genetic counseling is strongly recommended to fully understand the implications of your test results.
Test Pricing Information
| Test Name | Regular Price | Discount Price |
|---|---|---|
| MKS1 Gene Bardet-Biedl Syndrome Type 13 NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our MKS1 Gene Bardet-Biedl Syndrome Type 13 NGS Genetic DNA Test provides the answers you need for informed medical care and family planning. With results available in 3-4 weeks and requiring only a simple blood sample or extracted DNA, getting tested has never been more convenient.
Ready to schedule your genetic test? Call us today at +1(267) 388-9828 or book your appointment online. Our genetic counselors are available to answer your questions and guide you through the testing process.
Remember to bring your clinical history and be prepared for a genetic counseling session to create a comprehensive family pedigree chart before your test. This preliminary step ensures the most accurate interpretation of your genetic results and provides valuable context for understanding your family’s genetic health.
