VPS13A Gene Choreoacanthocytosis NGS Genetic Test
Short Name: VPS13A Gene ChAc NGS Test
Also known as: VPS13A Gene Sequencing, Choreoacanthocytosis Genetic Test, ChAc NGS Test, Neuroacanthocytosis Gene Test
VPS13A Gene Choreoacanthocytosis 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 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 detect mutations in the VPS13A gene that cause choreoacanthocytosis. It can confirm a clinical suspicion of ChAc, provide a molecular diagnosis for affected individuals, help identify carriers in at-risk family members, and support pre-test and post-test genetic counseling.
- Test Code
- 3954
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks after sample receipt
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting or special preparation is required. The patient or referring doctor should provide relevant clinical history and neurological assessment details. Genetic counseling before the test is recommended to understand the implications of possible results.
Method: Peripheral blood collection / FTA card spot / DNA sample submission
Laboratory Analysis
A trained phlebotomist will collect a small blood sample. If an FTA card is used, one drop of blood is placed on the card and allowed to air dry. For an extracted DNA sample, the participant should follow the laboratory's submission instructions.
Report Delivery
After collection, the sample should be labeled properly and transported to the laboratory as per instructions. The patient can resume normal daily activities immediately. The report is usually available in 3 to 4 weeks.
Timeline: 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 detect mutations in the VPS13A gene that cause choreoacanthocytosis. It can confirm a clinical suspicion of ChAc, provide a molecular diagnosis for affected individuals, help identify carriers in at-risk family members, and support pre-test and post-test genetic counseling.
How to Prepare
- For whole blood, use an EDTA vacutainer and mix gently to avoid clotting
- For FTA card, spot one drop of blood onto the marked circle and air dry completely before sealing
- Label the sample with patient name, date of birth, and collection date
- Include the completed test request form and clinical history
- Transport the sample at ambient temperature unless otherwise instructed
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"If a VPS13A variant is confirmed, family cascade testing and reproductive options should be discussed. This test must be interpreted along with clinical examination and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Improperly labelled sample
- Incomplete patient information or missing consent form
- FTA card that is not completely dry or is sealed with moisture
Understanding Your Results
Confirms the molecular diagnosis of VPS13A-associated choreoacanthocytosis; affected individual.
Strongly suggests a diagnosis; family studies and clinical correlation are recommended.
Cannot confirm or exclude disease; further segregation or functional studies may be recommended.
Negative result; does not exclude ChAc. Consider broader neuroacanthocytosis panel or other differential diagnoses.
If the test identifies a pathogenic or likely pathogenic VPS13A variant, consult a clinical geneticist, neurologist, and genetic counselor for management and family planning. If symptoms persist despite a negative result, discuss additional diagnostic options with your doctor.
Limitations
- ⚠NGS may not detect all mutation types, such as large genomic rearrangements, deep intronic variants, or promoter variants
- ⚠A negative result does not completely exclude choreoacanthocytosis if clinical suspicion remains high
- ⚠Variants of uncertain significance may require family segregation studies to determine pathogenicity
- ⚠The test assesses only the VPS13A gene; other neuroacanthocytosis-related genes may need to be considered
Risks & Considerations
- ●Pain, bruising, or slight bleeding at the venipuncture site
- ●Rare risk of infection or hematoma with blood collection
- ●Psychological stress related to genetic findings
- ●Privacy and confidentiality concerns, though labs follow strict security protocols
Interfering Factors
- ●Inadequate quality or quantity of extracted DNA may affect sequencing results
- ●FTA card samples that are not properly dried may cause sample degradation
- ●The test does not detect large deletions, duplications, or complex rearrangements unless specifically included in the analysis
- ●Contamination of sample with other biological material may interfere with results
Compare With Similar Tests
| Test | VPS13A Gene Choreoacanthocytosis NGS Genetic Test | Sanger Sequencing (VPS13A) | Neuroacanthocytosis NGS Panel | Clinical Exome Sequencing |
|---|---|---|---|---|
| Comparison | VPS13A Gene Choreoacanthocytosis NGS Genetic Test |
Frequently Asked Questions
What is VPS13A gene choreoacanthocytosis NGS genetic test?
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