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BTD Gene Biotinidase deficiency NGS Genetic Test

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BTD Gene Biotinidase deficiency NGS Genetic Test

Short Name: Biotinidase Deficiency NGS Test

Also known as: BTD Gene Test, Biotinidase Deficiency Genetic Analysis, NGS for Biotinidase Deficiency

BTD Gene Biotinidase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestMale/Female🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the BTD Gene Biotinidase Deficiency NGS Genetic Test is to diagnose biotinidase deficiency by identifying mutations in the BTD gene using Next Generation Sequencing technology. This test aids in confirming clinical diagnoses, guiding treatment decisions, facilitating carrier testing for family members, and supporting prenatal or preconception planning. It is essential for early intervention to prevent metabolic crises and associated complications.

Test Code
1899
Price
₹20,000
Sample Type
Blood, Extracted DNA, or Blood on FTA Card
Result Time
3 to 4 Weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Ensure the patient's clinical history and family pedigree are documented during genetic counseling. No specific preparation is required, but avoid biotin supplements if possible as per physician advice.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

Blood samples will be collected via standard venipuncture or finger-prick for FTA card. Follow aseptic techniques to prevent contamination.

Step 3

Report Delivery

Label samples correctly and transport at ambient room temperature as specified. Ensure timely delivery to the lab to maintain sample integrity.

Timeline: 3 to 4 Weeks from sample receipt

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss family history and implications. No fasting required, but avoid biotin supplements if instructed.
2
During the Test:A small blood sample will be collected. The process is quick, with minimal discomfort similar to a standard blood draw.
3
After the Test:Apply pressure to the puncture site to prevent bruising. Resume normal activities. Reports will be available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of the BTD Gene Biotinidase Deficiency NGS Genetic Test is to diagnose biotinidase deficiency by identifying mutations in the BTD gene using Next Generation Sequencing technology. This test aids in confirming clinical diagnoses, guiding treatment decisions, facilitating carrier testing for family members, and supporting prenatal or preconception planning. It is essential for early intervention to prevent metabolic crises and associated complications.

How to Prepare

  • Collect blood in an EDTA tube or use a FTA card for one drop of blood
  • Maintain ambient room temperature during transport
  • Provide detailed patient information and genetic counseling forms
  • Avoid hemolysis by gentle handling of blood samples

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for biotinidase deficiency is crucial for timely intervention, preventing complications like developmental delays and seizures. Consult a geneticist for personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood in EDTA tube: Stable for 24 hours at room temperature
Blood on FTA card: Stable at room temperature for extended periods
Extracted DNA: Stable at 2-8°C for up to 7 days
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or unlabeled samples
  • Samples without completed genetic counseling documentation

Understanding Your Results

Results from the BTD Gene Biotinidase Deficiency NGS Genetic Test are interpreted based on the presence or absence of pathogenic mutations in the BTD gene. Genetic counseling is recommended to understand the implications.
Positive Result: One or more pathogenic variants detected, indicating biotinidase deficiency or carrier status. Clinical correlation and treatment with biotin are advised.
Negative Result: No pathogenic variants detected, suggesting low risk but not ruling out all genetic causes. Clinical symptoms may require further investigation.
Variant of Uncertain Significance (VUS): A genetic variant identified but with unclear clinical significance. Follow-up testing and family studies may be needed.
⚠️ When to Consult a Doctor:

Consult a doctor if the test results are positive, if symptoms of biotinidase deficiency persist despite negative results, or for family planning guidance. Immediate consultation is needed for seizures or developmental delays.

Limitations

  • ⚠May not detect all possible genetic variations or mutations in the BTD gene
  • ⚠Cannot determine enzyme activity levels directly
  • ⚠Requires genetic counseling for accurate interpretation of variants of uncertain significance
  • ⚠Not suitable for prenatal diagnosis without additional confirmatory tests

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection or dizziness
  • ●Psychological impact of genetic results; counseling provided to mitigate

Interfering Factors

  • ●Hemolyzed or lipemic blood samples
  • ●Improper sample storage or transportation
  • ●Contaminated DNA samples
  • ●Recent biotin supplementation (though rare)

Compare With Similar Tests

TestBTD Gene Biotinidase deficiency NGS Genetic Test
ComparisonBTD Gene Biotinidase deficiency NGS Genetic Test

Frequently Asked Questions

What is the BTD Gene Biotinidase Deficiency NGS Genetic Test?
It is a Next Generation Sequencing test that analyzes the BTD gene to identify mutations causing biotinidase deficiency, a metabolic disorder affecting biotin recycling.
What are the symptoms of biotinidase deficiency?
Symptoms include skin rash, hair loss, seizures, developmental delay, hearing loss, weak muscle tone, poor appetite, nausea, eye problems, and respiratory infections.
How is biotinidase deficiency diagnosed?
Diagnosis involves a blood test for biotinidase enzyme activity and/or genetic testing like the NGS test to detect BTD gene mutations.
What does the NGS Genetic Test involve?
The test involves analyzing DNA from a blood sample using advanced sequencing technology to detect all variants in the BTD gene associated with biotinidase deficiency.
What is the cost of the BTD Gene NGS Test at DNA Labs India?
The test costs INR 20,000, with free home sample collection available across India for online bookings.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks from sample collection and can be accessed via online portal, email, or WhatsApp.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection in numerous cities across India for the BTD Gene NGS Test.
Who should consider getting tested for biotinidase deficiency?
Individuals with symptoms like seizures or developmental delay, newborns with positive screening, or those with a family history of the disorder should consider testing.
Can the NGS test detect all mutations in the BTD gene?
The NGS test is highly comprehensive but may not detect all possible genetic variations. Genetic counseling helps interpret results accurately.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the BTD gene, confirming biotinidase deficiency or carrier status, requiring medical consultation for treatment.
How do I prepare for the test?
No special preparation is needed, but a pre-test genetic counseling session is required to assess family history. Avoid biotin supplements if advised.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is included to draw a family pedigree chart and explain the test implications and results.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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