Biotinidase Quantitative

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    1 test included



blood sample




Age group

7 years & above

Biotinidase deficiency is an autosomal recessive disorder caused by the mutation in the biotinidase gene. It leads to decreased absorption of biotin from the intestine. This condition can hamper the newborn’s growth as biotin is one of the major components in food, breast milk, and infant formula.

Biotinidase Quantitative Test - Overview

A biotinidase deficiency test is included in the screening panel for newborns to rule out this genetic disorder. The blood sample undergoes drying and multiple enzymatic assays to test biotinidase activity.

Clinical advancement has led to the development of test kits that allow pathologists to analyse the samples through fluorescence. A simple fluorescence test gives the accurate result.

However, detailed tests allow the doctor to compare the sample value to the standard cut-off and analyse the results accordingly. This determines the extent to which an enzyme performs its usual activity in the blood.

After confirming the results in preliminary tests, one can also opt for a follow-up test that includes serum or plasma testing. This is advisable for newborns who have received abnormal results in their blood samples.

Serum testing requires parental samples as well since it is an inherited disorder. They are not necessary if the symptoms occur at an adult stage or older age. However, it is mandatory for newborn screening.

The primary sample for testing and the parent’s sample for comparison must be collected simultaneously. This prevents manual errors, mishandling, and variability that might arise due to differences in time of collection.

Who Should Get Tested?

Biotinidase deficiency affects the growth and development of the baby. The symptoms include vision and hearing loss, seizures, hair loss, and skin rashes. However, some of these symptoms indicate that the condition is irreversible.

Newborn screening can easily differentiate between profound and partial biotinidase deficiency. When the biotinidase quantitative test results reflect the status of the disorder on time, it becomes easier to start biotin therapy.

With timely therapy and early diagnosis through biotinidase quantitative, parents can achieve the asymptomatic stage for their newborn.

Genetic testing helps in giving final confirmation about the severity of the disorder. For parents who reflect a partial deficiency in biotinidase quantitative tests, genetic screening can help their newborn manage the condition.  

Medically reviewed by Dr. S V S Sreedhar, Paediatrics, Apollo Hospitals, Jubilee Hills, Hyderabad.

faqFrequently Asked Questions (FAQs)

If the condition of biotinidase goes untreated, you can face several complications that hamper normal functioning. These complications include permanent damage to intellectual ability, vision, and hearing sense. Hence, it is crucial to undergo a Biotinidase Quantitative Test to assess the health condition. Choosing a reliable medical lab for such a vital assessment is of utmost importance.
Food items like almonds, cauliflower, whole grains, bananas, walnuts, and egg yolk contain biotin. In addition, you can also receive this vitamin through organ meats, soybeans, and cereals. Biotin is crucial in improving hair health, skin hydration, appearance, and regulating other metabolic activities. Hence, biotin deficiency is associated with brittle nails, hair loss, and rashes on the skin.
A newborn diagnosed with this deficiency through a Biotinidase Quantitative Test implies inheritance from the parents. This condition can pass from each parent through the transfer of the nonworking BTD gene. It is crucial to realise that newborns with two BTD genes have a biotinidase deficiency. Hence, infant screening has become highly important to detect such a genetic condition.
In most cases, the average biotinidase level ranges from 3.5 to 13.8 U/L. In this measurement, U/L stands for units/litre. However, different labs can use distinct testing techniques and measurement units. Hence, the ranges can differ based on the type of the pathology lab’s method. An expert medical diagnosis of the reports is necessary to determine biotinidase deficiency.
Generally, most labs categorise newborn screening labs into three segments — in-range, borderline, and out-of-range. In-range results indicate a negative report. Hence, the newborn is at zero to low risk in such a scenario. On the other hand, borderline and out-of-range reports signify medium and high risk, respectively.

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The information mentioned above is meant for educational purposes only and should not be taken as a substitute to your Physician’s advice. It is highly recommended that the customer consults with a qualified healthcare professional to interpret test results