BCKDHB Gene Maple Syrup Urine Disease Type 1B NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The BCKDHB Gene Maple Syrup Urine Disease Type 1B NGS Genetic DNA Test represents a breakthrough in precision medicine for metabolic disorders. This advanced diagnostic tool utilizes next-generation sequencing technology to identify specific mutations in the BCKDHB gene, which plays a critical role in branched-chain amino acid metabolism. Maple Syrup Urine Disease Type 1B is a rare but serious inherited metabolic condition that, if left undiagnosed, can lead to severe neurological damage and life-threatening complications.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets the BCKDHB gene located on chromosome 6, which encodes the E1β subunit of the branched-chain α-ketoacid dehydrogenase complex. The test identifies:
- Point mutations, deletions, and insertions in the BCKDHB gene
- Pathogenic variants affecting enzyme function
- Carrier status for autosomal recessive inheritance
- Specific genetic markers associated with disease severity
- Novel mutations through comprehensive gene sequencing
Who Should Consider This Genetic Test
This test is particularly recommended for individuals displaying specific clinical indications:
- Newborns with characteristic sweet, maple syrup-like odor in urine
- Infants experiencing poor feeding, vomiting, or lethargy
- Children with developmental delays or neurological symptoms
- Individuals with family history of metabolic disorders
- Siblings of diagnosed patients for carrier screening
- Couples with previous affected children planning future pregnancies
- Patients with unexplained metabolic acidosis or ketosis
Significant Benefits of Genetic Testing
Early detection through this NGS genetic test provides numerous advantages:
- Early Intervention: Enables prompt dietary management and treatment
- Prevention of Complications: Reduces risk of neurological damage
- Family Planning: Provides crucial information for genetic counseling
- Personalized Treatment: Guides specific dietary restrictions and medical care
- Carrier Detection: Identifies asymptomatic carriers within families
- Prognostic Information: Helps predict disease course and management needs
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates presence of pathogenic mutations requiring immediate medical management
- Negative Result: Suggests absence of tested mutations but doesn’t rule out other genetic causes
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who can pass the condition to offspring
All results are accompanied by detailed explanations and recommendations for follow-up care with metabolic specialists.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
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 state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need for proper diagnosis and management of metabolic disorders. Our genetic counselors and metabolic specialists are ready to guide you through the testing process and help interpret your results.
Call us now at +1(267) 388-9828 to schedule your BCKDHB Gene Maple Syrup Urine Disease Type 1B NGS Genetic DNA Test or book your appointment online. Early detection saves lives and improves quality of life for affected individuals and their families.
