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SLC5A5 Gene Thyroid dyshormonogenesis type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SLC5A5 Gene Thyroid dyshormonogenesis type 1 NGS Genetic Test

Short Name: SLC5A5 NGS Test

Also known as: SLC5A5 Gene Mutation Analysis, Thyroid Dyshormonogenesis Type 1 Genetic Test, NIS Gene Test

SLC5A5 Gene Thyroid dyshormonogenesis type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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)🏠 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

To detect mutations in the SLC5A5 gene responsible for thyroid dyshormonogenesis type 1, aiding in diagnosis, treatment planning, and genetic counseling.

Test Code
2639
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
NGS Technology
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and family history.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Report delivery in 3-4 weeks with genetic counseling follow-up.

About This Test

Who Should Get This Test

To detect mutations in the SLC5A5 gene responsible for thyroid dyshormonogenesis type 1, aiding in diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Ensure proper labeling of samples
  • Use sterile collection tubes
  • Transport samples at ambient temperature

Doctor's Notes

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

"Genetic testing for SLC5A5 mutations confirms diagnosis of thyroid dyshormonogenesis type 1, enabling targeted treatment and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 24 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the SLC5A5 gene. Positive results confirm thyroid dyshormonogenesis type 1, while negative results may require further clinical evaluation.
📊

Positive for pathogenic mutation

Confirms diagnosis of thyroid dyshormonogenesis type 1. Recommend treatment and genetic counseling.

📊

Negative for pathogenic mutation

No mutations detected. Consider other causes of thyroid dysfunction.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms persist, test results are positive, or for family planning advice based on genetic findings.

Limitations

  • ⚠May not detect all possible mutations in the SLC5A5 gene
  • ⚠Results require interpretation by a genetic counselor or specialist

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample storage or handling

Compare With Similar Tests

TestSLC5A5 Gene Thyroid dyshormonogenesis type 1 NGS Genetic TestThyroid Function Test (TFT)TSH Test
ComparisonSLC5A5 Gene Thyroid dyshormonogenesis type 1 NGS Genetic Test

Frequently Asked Questions

What is the SLC5A5 gene?
The SLC5A5 gene encodes the sodium-iodide symporter (NIS) protein, essential for iodine uptake in the thyroid gland.
What is thyroid dyshormonogenesis type 1?
It is a rare genetic disorder caused by SLC5A5 mutations, leading to impaired thyroid hormone production.
How is the SLC5A5 gene test performed?
Using next-generation sequencing (NGS) to analyze DNA for mutations in the SLC5A5 gene.
What are the symptoms of thyroid dyshormonogenesis type 1?
Symptoms include fatigue, weight gain, cold intolerance, constipation, depression, dry skin, and brittle hair and nails.
How long does it take to get test results?
Results are typically available within 3 to 4 weeks.
Is the test covered by insurance?
Coverage varies by insurance policy; check with your provider for details.
What sample is required for the test?
Blood, extracted DNA, or one drop blood on an FTA card.
Is fasting required before the test?
No, fasting is not required.
Can the test be done at home?
Yes, free home sample collection is available for online bookings across India.
What if the test result is positive?
A positive result confirms the diagnosis, and your doctor will recommend treatment and genetic counseling.
How accurate is the SLC5A5 gene test?
NGS technology provides high accuracy for detecting mutations, but interpretation should be done by a specialist.
Who should consider taking this test?
Individuals with symptoms of thyroid dysfunction, a family history of thyroid dyshormonogenesis, or those seeking genetic diagnosis.
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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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