BTD Gene Biotinidase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Health
The BTD Gene Biotinidase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. Biotinidase deficiency is an autosomal recessive metabolic condition that affects the body’s ability to process biotin, an essential B vitamin. This comprehensive genetic screening utilizes next-generation sequencing technology to analyze the BTD gene, providing unparalleled accuracy in detecting mutations that could lead to serious health complications if left undiagnosed.
What This Advanced Test Measures
Our sophisticated NGS-based test specifically targets the BTD gene located on chromosome 3p25. This gene encodes the enzyme biotinidase, which plays a critical role in biotin recycling and absorption. The test comprehensively analyzes:
- Complete sequencing of the BTD gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of known pathogenic variants associated with biotinidase deficiency
- Assessment of novel genetic variations with potential clinical significance
Who Should Consider This Genetic Screening
This test is particularly recommended for individuals experiencing:
- Unexplained neurological symptoms including seizures, hypotonia, or developmental delay
- Dermatological manifestations such as alopecia, skin rashes, or conjunctivitis
- Metabolic acidosis or organic aciduria of unknown origin
- Family history of biotinidase deficiency or consanguineous parents
- Newborns with abnormal newborn screening results
- Children with hearing loss or vision problems of uncertain etiology
Significant Benefits of Early Detection
Early identification through our BTD gene testing offers numerous advantages:
- Prevention of irreversible neurological damage through timely biotin supplementation
- Improved developmental outcomes in affected children
- Accurate family planning guidance for carriers and affected families
- Personalized treatment strategies based on specific genetic mutations
- Peace of mind through definitive diagnosis
- Cost-effective healthcare by preventing expensive complications
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results effectively:
- Normal Result: No pathogenic variants detected in the BTD gene
- Carrier Status: One pathogenic variant identified – indicates carrier status without disease manifestation
- Affected Status: Two pathogenic variants identified – confirms biotinidase deficiency diagnosis
- Variant of Uncertain Significance: Genetic changes with unknown clinical impact requiring further evaluation
All positive results include detailed consultation with our genetic specialists to discuss treatment options, including biotin supplementation protocols and long-term management strategies.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | BTD Gene Biotinidase Deficiency NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | General Physician, Genetics |
| Method | NGS Technology |
| Disease Type | Metabolic Disorders |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of potential implications and treatment options
- Informed consent for genetic testing
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures easy access to this vital genetic screening.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about metabolic health concerns affect your quality of life. Our BTD Gene Biotinidase Deficiency NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions. Early detection can prevent serious complications and ensure optimal treatment outcomes.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential metabolic screening test. Our genetic specialists are ready to guide you through every step of the testing process and help you understand your results for better health management.
