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SLC52A3 Gene Fazio-Londe disease NGS Genetic Test

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SLC52A3 Gene Fazio-Londe disease NGS Genetic Test

Short Name: Fazio-Londe Disease NGS Test

Also known as: Progressive Bulbar Palsy of Childhood, Riboflavin Transporter Deficiency Type 3

SLC52A3 Gene Fazio-Londe disease 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 from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 this test is to detect mutations in the SLC52A3 gene to confirm or rule out Fazio-Londe disease in individuals presenting with symptoms such as muscle weakness, respiratory issues, or a family history of the disorder. It aids in accurate diagnosis, genetic counseling, and informed decision-making for patient care.

Test Code
2351
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required, but providing a detailed clinical and family history is recommended. Ensure genetic counseling is scheduled if needed.

Method: Venipuncture or FTA Card Dried Blood Spot

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture or a dried blood spot on an FTA card. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Normal activities can be resumed immediately. Samples will be processed in the laboratory.

Timeline: 3 to 4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to understand the test implications. Provide a complete family pedigree and medical history.
2
During the Test:Sample collection involves a simple blood draw or finger-prick for FTA card. The test is performed in a certified laboratory using NGS technology.
3
After the Test:Results are reviewed by geneticists and delivered via the chosen method. Follow-up consultation is recommended to discuss findings.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the SLC52A3 gene to confirm or rule out Fazio-Londe disease in individuals presenting with symptoms such as muscle weakness, respiratory issues, or a family history of the disorder. It aids in accurate diagnosis, genetic counseling, and informed decision-making for patient care.

How to Prepare

  • Use sterile equipment for sample collection
  • Label samples accurately with patient details
  • Store blood samples at ambient room temperature if not using FTA card
  • Ship samples to the lab within 48 hours of collection

Doctor's Notes

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

"Early genetic testing for SLC52A3 mutations is crucial for timely management of Fazio-Londe disease, especially in families with a history of neuromuscular symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or FTA Card Dried Blood Spot

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards can be stored at room temperature for extended periods
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect sample labeling
  • Expired or compromised FTA cards

Understanding Your Results

Results from the SLC52A3 Gene Fazio-Londe Disease NGS Genetic Test should be interpreted by a clinical geneticist or neurologist. A positive result indicates the presence of pathogenic mutations in the SLC52A3 gene, confirming the diagnosis of Fazio-Londe disease.
Positive: Pathogenic mutations detected, consistent with Fazio-Londe disease diagnosis.
Negative: No pathogenic variants found; symptoms may be due to other causes.
Variant of Uncertain Significance (VUS): Further testing or family studies may be needed.
Carrier status: Identification of one mutation; individual may be a carrier but not affected.
⚠️ When to Consult a Doctor:

Consult a doctor if genetic test results are positive, or if symptoms such as progressive muscle weakness, difficulty breathing, or swallowing worsen. Also, seek genetic counseling for family planning if carrier status is identified.

Limitations

  • ⚠May not detect all possible mutations in the SLC52A3 gene
  • ⚠Does not assess for other genetic causes of similar symptoms
  • ⚠Results require interpretation by a genetic specialist

Risks & Considerations

  • ●Minimal risk of bruising or infection from blood collection
  • ●Psychological impact of genetic test results
  • ●Potential for uncertain results requiring further testing

Interfering Factors

  • ●Contaminated or degraded DNA samples
  • ●Recent blood transfusions
  • ●Improper sample storage or handling

Compare With Similar Tests

TestSLC52A3 Gene Fazio-Londe disease NGS Genetic TestSMN1 Gene Spinal Muscular Atrophy TestDMD Gene Duchenne Muscular Dystrophy TestHSP Gene Panel for Hereditary Spastic ParaplegiaMitochondrial DNA Sequencing
ComparisonSLC52A3 Gene Fazio-Londe disease NGS Genetic Test

Frequently Asked Questions

What is Fazio-Londe disease?
Fazio-Londe disease is a rare genetic disorder caused by mutations in the SLC52A3 gene, leading to progressive muscle weakness and respiratory issues.
Who should get this genetic test?
Individuals with symptoms like muscle wasting, difficulty speaking or breathing, or a family history of the disease should consider this test.
How is the test performed?
The test uses Next Generation Sequencing (NGS) to analyze the SLC52A3 gene from a blood or DNA sample.
What is the cost of the SLC52A3 Gene Fazio-Londe Disease NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with home sample collection available at no extra charge.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample receipt.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India for this test.
What does a positive result mean?
A positive result indicates pathogenic mutations in the SLC52A3 gene, confirming a diagnosis of Fazio-Londe disease.
Can this test detect all mutations in the SLC52A3 gene?
While NGS is comprehensive, it may not detect every possible mutation, and results should be interpreted by a genetic specialist.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications and discuss family planning.
What are the risks of the test?
Risks are minimal, such as bruising from blood draw, but emotional impact of results should be considered.
How should I prepare for the test?
No special preparation is needed, but providing detailed medical and family history is important.
What happens after a diagnosis?
A diagnosis allows for tailored management, including respiratory support, physical therapy, and genetic counseling for families.
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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