NKX2-1 Gene Chorea, Hereditary Benign NGS Genetic Test
Short Name: NKX2-1 Gene Chorea NGS
Also known as: Hereditary Benign Chorea NGS Test, NKX2-1 Gene Sequencing, Benign Hereditary Chorea DNA Test
NKX2-1 Gene Chorea, Hereditary Benign 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 issued in 3 to 4 weeks from the date the sample is received at the laboratory.. 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 test is to identify pathogenic or likely pathogenic variants in the NKX2-1 gene that cause hereditary benign chorea. It is used to confirm a clinical diagnosis, aid in genetic counseling, and provide information for family members who may be at risk.
- Test Code
- 3953
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued in 3 to 4 weeks from the date the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please provide your clinical history, medication list, and any previous genetic test reports. A genetic counseling session will be arranged to draw a pedigree chart if needed.
Method: Peripheral blood draw, FTA card blood spot, or extracted DNA submission
Laboratory Analysis
A licensed phlebotomist will collect blood in an EDTA tube or a few drops of blood on the FTA card. The procedure takes less than 5 minutes. If you are submitting extracted DNA, follow the laboratory supply instructions.
Report Delivery
You can resume routine activities immediately. Keep the sample stable at room temperature unless otherwise advised, and hand it to the laboratory courier as per instructions.
Timeline: Reports are issued in 3 to 4 weeks from the date the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the NKX2-1 gene that cause hereditary benign chorea. It is used to confirm a clinical diagnosis, aid in genetic counseling, and provide information for family members who may be at risk.
How to Prepare
- No fasting is required.
- For EDTA blood, mix gently after collection to prevent clotting.
- For FTA card, allow the blood spot to dry completely before packaging.
- Label the sample with patient name, date of birth and collection date.
- Ship the sample in a sealed biohazard bag using the provided kit.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A confirmed NKX2-1 genetic diagnosis can be valuable for reproductive planning and early intervention in affected children. I advise a combined neurological and genetic approach for individuals presenting with unexplained chorea."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted EDTA blood sample
- Hemolyzed sample
- Mislabeled sample
- Insufficient sample quantity
- Sample leaking during transport
- Sample received without consent or requisition form
Understanding Your Results
No disease-causing variant detected
Recommendation: Review the clinical indication and consider a broader movement disorder panel if symptoms persist.
Pathogenic or likely pathogenic variant detected
Recommendation: Proceed with genetic counseling and evaluate at-risk family members.
Variant of uncertain significance (VUS)
Recommendation: Correlate with phenotype; consider family studies or additional testing.
Benign or likely benign variant detected
Recommendation: Continue clinical evaluation for other causes of chorea.
Consult a neurologist or clinical geneticist if you or your child has unexplained chorea, developmental delay, hypothyroidism, respiratory symptoms, or a family history of hereditary benign chorea. If you are planning a family and carry a known NKX2-1 variant, seek preconception genetic counseling.
Limitations
- ⚠NGS detects point variants and small insertions or deletions within coding and splice-site regions; it may not detect deep intronic variants, large exon-level deletions or duplications, repeat expansions, or structural rearrangements.
- ⚠A negative result does not exclude non-genetic causes of chorea.
- ⚠Variant classification may change over time as new evidence becomes available.
- ⚠Low-level mosaicism may not be detected.
Risks & Considerations
- ●Bruising or pain at the blood collection site
- ●Dizziness during venipuncture
- ●Rare infection at the puncture site
- ●Emotional or psychological stress related to genetic results
Interfering Factors
- ●Sample degradation due to prolonged transport or high temperature
- ●Contamination with another individual's DNA
- ●Incomplete coverage of certain genomic regions
- ●Presence of large deletions or duplications not detected by NGS
- ●Mosaic variants below the analytical sensitivity of the test
Compare With Similar Tests
| Test | NKX2-1 Gene Chorea, Hereditary Benign NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | NKX2-1 Gene Chorea, Hereditary Benign NGS Genetic Test |
Frequently Asked Questions
What is the NKX2-1 gene chorea hereditary benign NGS genetic test?
What is hereditary benign chorea?
What are the symptoms of NKX2-1 gene chorea?
How is the NKX2-1 gene chorea diagnosed?
What sample is needed for this NGS genetic test?
Is fasting required before the NKX2-1 NGS test?
What is the cost of the NKX2-1 hereditary benign NGS genetic test in India?
How long will the report take?
Will I get raw data, FASTQ and VCF files with my report?
Do I need genetic counseling before this test?
Can this test be used for prenatal or preimplantation diagnosis?
What does a pathogenic variant in the NKX2-1 gene mean?
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