NDUFA13 Gene Hurthle cell thyroid carcinoma, due to germline NDUFA13 mutation NGS Genetic Test
Short Name: NDUFA13 NGS Test
Also known as: Hurthle cell carcinoma genetic test, NDUFA13 mutation analysis, Thyroid cancer NGS panel
NDUFA13 Gene Hurthle cell thyroid carcinoma, due to germline NDUFA13 mutation 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 Reports are typically delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to identify germline mutations in the NDUFA13 gene that are associated with an increased risk of developing Hurthle cell thyroid carcinoma. This test is indicated for individuals with a personal or family history of Hurthle cell thyroid carcinoma, especially when a hereditary component is suspected. The results can confirm a genetic diagnosis, guide clinical management, and enable predictive testing for at-risk family members.
- Test Code
- 5993
- CPT Code
- 81479
- ICD Code
- C73
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. You may resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify germline mutations in the NDUFA13 gene that are associated with an increased risk of developing Hurthle cell thyroid carcinoma. This test is indicated for individuals with a personal or family history of Hurthle cell thyroid carcinoma, especially when a hereditary component is suspected. The results can confirm a genetic diagnosis, guide clinical management, and enable predictive testing for at-risk family members.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card.
- Label the sample with patient name and date of birth.
- For FTA card, allow the blood spot to air dry for at least 30 minutes before sealing.
- Transport the sample to the lab within 24 hours if refrigerated, or within 7 days if at room temperature.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early detection of NDUFA13 germline mutations can guide surveillance and family screening for Hurthle cell thyroid carcinoma."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper temperature control
Understanding Your Results
Positive (Pathogenic variant)
Confirms germline NDUFA13 mutation. Increased risk for Hurthle cell thyroid carcinoma. Recommend regular thyroid ultrasound and clinical surveillance. Family members should consider predictive testing.
Negative (No pathogenic variant)
No germline NDUFA13 mutation detected. However, other genetic or somatic causes may still be present. Clinical management should be based on other findings.
Variant of Uncertain Significance (VUS)
A genetic variant was found but its clinical significance is unknown. Additional family studies or functional assays may be needed. Genetic counseling is advised.
Consult an oncologist or genetic counselor if you have symptoms such as a neck lump, hoarseness, difficulty swallowing, or a family history of thyroid cancer. Early consultation can lead to timely diagnosis and management.
Limitations
- ⚠This test detects germline mutations only; somatic mutations in tumor tissue are not assessed.
- ⚠Variants in non-coding regulatory regions may not be detected.
- ⚠Large deletions/duplications may not be identified by standard NGS; additional testing may be required.
- ⚠Results should be interpreted in the context of clinical and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Presence of hematologic malignancies causing clonal hematopoiesis
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Incorrect sample labeling or handling
Compare With Similar Tests
| Test | NDUFA13 Gene Hurthle cell thyroid carcinoma, due to germline NDUFA13 mutation NGS Genetic Test | BRAF V600E Mutation Test | RET Gene Mutation Test | Thyroid Cancer NGS Panel (Multi-gene) |
|---|---|---|---|---|
| Comparison | NDUFA13 Gene Hurthle cell thyroid carcinoma, due to germline NDUFA13 mutation NGS Genetic Test |
Frequently Asked Questions
What is the cost of the NDUFA13 gene NGS test in India?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
What does a positive result mean?
Can this test be done on a saliva sample?
Will I receive raw data files?
Is genetic counseling included?
Is home sample collection available?
What is the CPT code for this test?
Can this test detect somatic mutations?
What should I do if I have a family history of Hurthle cell carcinoma?
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