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LZTFL1 Gene Bardet-Biedl syndrome, LZTFL1 related NGS Genetic Test

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LZTFL1 Gene Bardet-Biedl syndrome, LZTFL1 related NGS Genetic Test

Short Name: LZTFL1 BBS NGS Test

Also known as: Bardet-Biedl Syndrome NGS Test, LZTFL1 Gene Mutation Analysis

LZTFL1 Gene Bardet-Biedl syndrome, LZTFL1 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To confirm diagnosis of Bardet-Biedl Syndrome by identifying mutations in the LZTFL1 gene, enabling personalized treatment strategies, genetic counseling, and family risk assessment.

Test Code
2565
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications, obtain informed consent, and draw a pedigree chart of family history.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist; alternatively, extracted DNA or FTA card sample may be used.

Step 3

Report Delivery

Sample is transported to the laboratory under stable conditions for NGS analysis; reports are generated and delivered in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required; provide detailed clinical history and family pedigree.
2
During the Test:Non-invasive blood sample collection; minimal discomfort during venipuncture.
3
After the Test:Results are analyzed by geneticists; follow-up counseling recommended to discuss implications and next steps.

About This Test

Who Should Get This Test

To confirm diagnosis of Bardet-Biedl Syndrome by identifying mutations in the LZTFL1 gene, enabling personalized treatment strategies, genetic counseling, and family risk assessment.

How to Prepare

  • Ensure proper patient identification and labeling of samples
  • Use sterile collection techniques to avoid contamination
  • Follow instructions for FTA card if using one-drop blood method

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for LZTFL1 mutations is crucial for confirming Bardet-Biedl Syndrome and guiding personalized management, including early intervention for associated complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrectly labeled or unlabeled sample
  • Insufficient sample volume for analysis

Understanding Your Results

Test results indicate the presence or absence of mutations in the LZTFL1 gene associated with Bardet-Biedl Syndrome, guiding clinical diagnosis and management.
Positive result: Pathogenic mutation detected in LZTFL1, confirming genetic basis for BBS and informing treatment plans
Negative result: No pathogenic mutation detected, but clinical evaluation for BBS should continue if symptoms persist
Variant of uncertain significance: Further testing or family studies may be needed for clarification
⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if symptoms of Bardet-Biedl Syndrome are present, for interpretation of test results, or for genetic counseling regarding family risks.

Limitations

  • ⚠May not detect all possible mutations in the LZTFL1 gene due to technical limitations
  • ⚠Results require interpretation by a genetic counselor or clinical geneticist
  • ⚠Does not rule out other genetic causes of Bardet-Biedl Syndrome or similar disorders

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results, requiring counseling support

Interfering Factors

  • ●Degraded or insufficient DNA sample quality
  • ●Contamination during sample collection or processing
  • ●Hemolyzed blood sample affecting DNA integrity

Compare With Similar Tests

TestLZTFL1 Gene Bardet-Biedl syndrome, LZTFL1 related NGS Genetic TestBardet-Biedl Syndrome Comprehensive PanelSingle Gene Sequencing for LZTFL1Whole Exome Sequencing
ComparisonLZTFL1 Gene Bardet-Biedl syndrome, LZTFL1 related NGS Genetic Test

Frequently Asked Questions

What is Bardet-Biedl Syndrome?
Bardet-Biedl Syndrome is a rare genetic disorder characterized by obesity, retinitis pigmentosa, polydactyly, kidney abnormalities, learning difficulties, and hypogonadism, caused by mutations in genes like LZTFL1.
What does the LZTFL1 gene do?
The LZTFL1 gene provides instructions for making a protein involved in intracellular protein transport; mutations can disrupt cellular functions and lead to Bardet-Biedl Syndrome.
How is Bardet-Biedl Syndrome diagnosed?
Diagnosis is based on clinical symptoms and confirmed through genetic testing, such as NGS analysis of genes like LZTFL1, to identify specific mutations.
What is the NGS Genetic Test for LZTFL1?
It is a Next-Generation Sequencing test that analyzes the LZTFL1 gene to detect mutations associated with Bardet-Biedl Syndrome, providing a comprehensive genetic profile.
What is the cost of the LZTFL1 Gene Test?
The cost is INR 20000.0 at DNA Labs India, which includes sample collection, analysis, and report generation.
Is the test covered by insurance?
Insurance coverage varies; it is advisable to check with your insurance provider before testing, as some policies may cover genetic tests for diagnostic purposes.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection, delivered via online portal, email, or WhatsApp.
What are the symptoms of Bardet-Biedl Syndrome?
Common symptoms include obesity, retinitis pigmentosa (vision loss), extra fingers or toes, kidney problems, learning difficulties, and reduced hormone production.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India, ensuring convenience for patients.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card, collected via venipuncture or alternative methods.
What should I do before getting tested?
Before testing, undergo genetic counseling to discuss implications, provide clinical history, and draw a family pedigree chart for accurate assessment.
How accurate is the genetic test?
The NGS test is highly accurate for detecting mutations in the LZTFL1 gene, but results should be interpreted by a genetic counselor in the context of clinical findings.
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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For Hospitals & Clinics

Reference Laboratory Services

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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