Biotinidase Activity Quantitative Blood Test
Understanding Biotinidase Enzyme Function
The Biotinidase Activity Quantitative Blood Test represents a critical advancement in metabolic disorder diagnostics, specifically targeting the assessment of biotinidase enzyme function. Biotinidase plays an indispensable role in the body’s ability to process and recycle biotin, a water-soluble B vitamin essential for numerous metabolic processes. This enzyme deficiency represents one of the most treatable inborn errors of metabolism, making early detection through this test potentially life-changing for affected individuals.
What Does This Test Measure?
This sophisticated diagnostic evaluation precisely quantifies the activity level of the biotinidase enzyme in blood samples. The test measures:
- Enzyme activity percentage compared to normal ranges
- Functional capacity to process biotin effectively
- Potential deficiency levels indicating metabolic disorders
- Severity classification of biotinidase deficiency
Clinical Importance and Medical Significance
Biotinidase deficiency represents a serious metabolic condition that, when left undiagnosed, can lead to irreversible neurological damage, developmental delays, and life-threatening complications. The enzyme’s primary function involves releasing biotin from dietary proteins and recycling the vitamin within the body. Without adequate biotinidase activity, individuals cannot properly utilize biotin, leading to multiple carboxylase deficiencies that disrupt essential metabolic pathways.
Who Should Consider This Test?
Healthcare providers typically recommend the Biotinidase Activity Quantitative Blood Test for:
- Infants and children with unexplained seizures or neurological symptoms
- Patients exhibiting developmental delays or regression
- Individuals with unexplained skin rashes, hair loss, or conjunctivitis
- Those with metabolic acidosis or organic aciduria
- Newborns with abnormal newborn screening results
- Family members of individuals diagnosed with biotinidase deficiency
Key Benefits of Early Detection
Early diagnosis through this quantitative blood test offers numerous advantages:
- Prevention of Neurological Damage: Timely biotin supplementation can prevent permanent brain injury
- Reversal of Symptoms: Many symptoms improve significantly with proper treatment
- Improved Quality of Life: Early intervention supports normal development and function
- Cost-Effective Management: Simple oral biotin therapy is highly effective and affordable
- Family Planning Guidance: Identifies genetic risks for future pregnancies
Understanding Your Test Results
Test results are typically categorized into three main classifications:
Normal Results
Normal biotinidase activity levels indicate adequate enzyme function and proper biotin processing capability. These results suggest that symptoms may be related to other conditions requiring further investigation.
Partial Deficiency
Moderately reduced enzyme activity may indicate partial biotinidase deficiency. While these individuals might not show symptoms under normal circumstances, they could become symptomatic during periods of stress, illness, or nutritional challenges.
Profound Deficiency
Severely reduced or absent enzyme activity indicates profound biotinidase deficiency, requiring immediate medical intervention and lifelong biotin supplementation to prevent serious complications.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $130 |
| Regular Price | $162 |
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible testing services for patients nationwide.
Sample Collection and Processing
This test requires a blood sample collected in specific conditions:
- Sample Volume: 2 mL minimum serum from SST tube OR 2 mL minimum plasma from Green Top Sodium Heparin tube
- Shipping Requirements: Samples must be shipped refrigerated or frozen
- Turnaround Time: Samples accepted daily by 4 pm with same-day reporting
- Preparation: No special preparation required before testing
Take Action for Better Health
Don’t wait to address potential metabolic concerns. The Biotinidase Activity Quantitative Blood Test provides crucial information that can guide effective treatment strategies and prevent serious health complications. Our experienced genetic counselors and metabolic specialists are available to discuss your results and provide comprehensive care recommendations.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your Biotinidase Activity Quantitative Blood Test and take the first step toward optimal metabolic health.
