BIOTINADASE ( PLASMA ) in Mayuri-nagar-welfare-association, Hyderabad

Biotinidase Deficiency (Plasma) Test: Price, Purpose, Range & Reports

The Biotinidase Deficiency (BD) Test is a critical diagnostic tool used to measure the activity of the biotinidase enzyme in the blood plasma. Biotinidase is essential for recycling the vitamin Biotin (Vitamin B7 or H) in the body, which plays a vital role in metabolism.
Undetected Biotinidase Deficiency is a treatable inherited metabolic disorder that, if left untreated, can lead to severe neurological damage and other health problems. Early diagnosis and simple biotin supplementation can prevent these serious complications.
If you are looking for the Biotinidase Deficiency (Plasma) price or need to schedule this specialised blood test, you can search for the service through Apollo 24|7 to find accredited lab testing options near you.

What is the Biotinidase Deficiency (Plasma) Test?

The Biotinidase Deficiency (BD) Test is a diagnostic assay used to measure the functional activity of the biotinidase enzyme in a blood sample, specifically in the plasma component. Biotinidase is a critical enzyme responsible for cleaving biocytin (a protein-bound form of Vitamin B7, or Biotin) to free up Biotin for use in metabolic processes.
When this enzyme is deficient, the body cannot effectively recycle or utilise biotin, leading to a treatable inherited metabolic disorder known as Biotinidase Deficiency. The test detects this lack of activity, allowing for early intervention.

What is the Biotinidase Deficiency (Plasma) Test Price?

The price of the Biotinidase Deficiency (Plasma) Test reflects the specialised enzymatic assay used to measure biotinidase activity with precision. Several factors influence the final cost of the test:
•    Technology Used: The test relies on automated, quantitative enzyme activity analysers to ensure accurate and reliable results. This advanced technology contributes to the overall value of the test.
•    Location: Pricing may vary between cities due to differences in operational costs, logistics, and regional healthcare infrastructure.
•    Service Type: Choosing home sample collection may slightly increase the total cost due to added convenience and travel-related charges.
•    Lab Accreditation: Tests performed at NABL-accredited laboratories, such as those operated by Apollo, meet high standards of accuracy and reliability. This is especially important when results are used for early diagnosis or clinical decision-making.
If you're looking for the most accurate and affordable Biotinidase Deficiency (Plasma) Test price near you, the best way to check is through the Apollo 24|7 website or app. Prices are updated regularly based on your location, and you’ll be able to view the latest rates along with any available discounts or offers.

What is the Purpose of the Biotinidase Deficiency (Plasma) Test?

The primary purpose of the test is to identify individuals, especially newborns, who have inadequate biotinidase enzyme activity. This early identification is crucial because:
•    Preventive Treatment: The condition is entirely preventable through simple, lifelong oral Biotin supplementation if diagnosed early.
•    Avoidance of Complications: Untreated Biotinidase Deficiency can lead to severe and irreversible neurological damage, developmental delay, hearing loss, vision problems, and dermatological issues (rashes, hair loss).
•    Diagnostic Confirmation: It is used to confirm a diagnosis in individuals who present with symptoms suggestive of a metabolic disorder.

Who Should Get a Biotinidase Deficiency (Plasma) Test Done?

The Biotinidase Deficiency (Plasma) Test is recommended for individuals who may be at risk of having or passing on biotinidase deficiency, a rare inherited disorder that affects the body’s ability to recycle biotin, a vital B-vitamin. Without enough biotin, the body cannot properly process fats, carbohydrates, and proteins, which can lead to serious neurological and metabolic symptoms if left untreated.

This test is typically advised for:

•    Newborns: In many countries, biotinidase deficiency is included in routine newborn screening to detect the condition early and begin treatment before symptoms appear.
•    Infants or children with unexplained symptoms: These may include seizures, developmental delays, skin rashes, hair loss, hearing loss, or breathing problems.
•    Individuals with a family history of the disorder: If a sibling or parent has been diagnosed, early testing can help identify affected individuals or carriers.
•    Parents undergoing genetic counselling: Couples with a known family history may be tested to assess the risk of passing the condition to their children.
•    Adults with late-onset symptoms: Though rare, some individuals may develop milder symptoms later in life, especially if they have partial enzyme deficiency.

Components of the Biotinidase Deficiency (Plasma) Test

The Biotinidase Deficiency (Plasma) Test includes a single key component:

Biotinidase (Plasma) – This test measures the activity of the biotinidase enzyme in a plasma sample. Biotinidase is responsible for recycling biotin, a B-vitamin essential for energy production, skin integrity, and proper functioning of the nervous system.
Assessing the enzyme’s activity helps determine whether an individual has normal, partial, or profound biotinidase deficiency.

Understanding a Biotinidase Deficiency (Plasma) Test Report

The Biotinidase Deficiency (Plasma) Test report provides a measurement of biotinidase enzyme activity in the blood, expressed in units such as nanomoles per minute per millilitre (nmol/min/mL). This enzyme is essential for recycling biotin, a B-vitamin that supports metabolism, skin health, and nervous system function.
Interpreting the results involves comparing the measured enzyme activity against established reference ranges:

Important Note
Biotinidase activity levels can be influenced by factors such as age, prematurity, recent blood transfusions, or certain medical conditions. For example, premature infants may show lower enzyme activity that does not necessarily indicate a true deficiency. Additionally, results should always be interpreted in the context of clinical symptoms and family history.
If a deficiency is suspected based on the test results, confirmatory testing or genetic analysis may be recommended to determine the specific type and severity of the condition. Early diagnosis and treatment with biotin supplements are essential to prevent potentially serious and irreversible complications. Always consult your healthcare provider for a complete evaluation and personalised guidance.

Preparation and Procedure for Biotinidase Deficiency (Plasma) Test

The procedure for the Biotinidase Deficiency (Plasma) test is a standard blood draw. However, unlike tests for hormones, the enzyme activity measured is generally stable, meaning timing is not a major factor.

1. How is the Test Done?

The test requires a routine blood sample (venipuncture), usually collected from a vein in your arm. The sample is collected into a specific tube containing an anticoagulant. The laboratory must then quickly separate the blood to isolate the plasma, as the test measures the functional activity of the biotinidase enzyme within this plasma component.

2. Is Fasting Required for This Test?

Fasting is generally NOT required. You can maintain your normal diet and hydration before the blood draw. Since the test measures stable enzyme activity rather than a fluctuating chemical level, external factors like recent food intake do not interfere.

3. What Time of the Day Should I Undergo the Test?

No specific timing is required. Unlike hormones, biotinidase enzyme activity does not vary significantly throughout the day (i.e., it has no circadian rhythm). The sample can be collected at any time that is convenient for you and the laboratory.

4. How Frequently Should I Undergo the Test?

The Biotinidase Deficiency (Plasma) test is typically a one-time, definitive diagnostic test. It is primarily used to:
•    Confirm an abnormal result from an initial newborn screening test (dried blood spot).
•    Diagnose symptomatic children or adults presenting with unexplained neurological issues.
Once a diagnosis is confirmed and treatment (Biotin supplementation) has begun, the test is rarely repeated.

5. Should I Inform My Doctor About Other Medications I Am Taking?

Yes. You must disclose all medications and, most importantly, any high-dose Biotin (Vitamin B7) supplements you are currently taking. While the Biotin supplement does not interfere with the actual enzyme activity measurement, this clinical information is essential for your doctor to accurately interpret the results and formulate the correct treatment plan.

Booking Biotinidase Deficiency (Plasma) Test Online & Checking Reports

Apollo 24|7 offers a seamless process for scheduling this specialised test and accessing your results.

A. How to Schedule the Test on Apollo 24|7

1.    Visit the Apollo 24|7 platform and search for Biotinidase Deficiency (Plasma).
2.    Review the latest Biotinidase Deficiency (Plasma) price for your location and click 'Book Now'.
3.    Select a convenient date and time for sample collection.
4.    Complete the secure online payment to confirm your booking.

B. How to Access Your Test Results Online

1.    Log in to your Apollo 24|7 account via the website or mobile app.
2.    Navigate to the 'Health Records' or 'My Reports' section.
3.    Click on the completed Biotinidase Deficiency (Plasma) report.
4.    You can view and download the detailed report in PDF format, which should be shared immediately with your prescribing physician, paediatrician, or genetic specialist.

Conclusion

The Biotinidase Deficiency (Plasma) Test is a simple but highly valuable diagnostic tool. It plays a critical role in identifying a rare yet treatable metabolic disorder at an early stage. Detecting biotinidase deficiency before symptoms appear allows for timely intervention with biotin supplements, which can prevent serious and potentially irreversible complications. This test highlights the importance of early screening in giving individuals the best chance at a healthy, symptom-free life through a straightforward and effective treatment approach.