HPCA Gene DYT2 NGS Genetic Test
Short Name: HPCA Gene DYT2 Test
Also known as: HPCA Gene Mutation Analysis, DYT2 Dystonia Genetic Test, HPCA Next Generation Sequencing Test, HPCA Gene Sequencing, Dystonia Type 2 Genetic Panel
HPCA Gene DYT2 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 Results are typically available within 3 to 4 weeks from sample receipt 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 primary purpose of the HPCA Gene DYT2 NGS Genetic Test is to confirm or rule out a diagnosis of DYT2 dystonia by detecting pathogenic or likely pathogenic mutations in the HPCA gene. This test is critical for establishing a definitive molecular diagnosis in patients presenting with clinical features consistent with DYT2 dystonia, enabling differentiation from other genetic and non-genetic forms of dystonia. It facilitates informed genetic counseling, assessment of recurrence risk in families, carrier detection in at-risk relatives, and may guide treatment decisions. The test also supports research into the genetic basis of dystonia and contributes to a better understanding of the condition's natural history.
- Test Code
- 1580
- CPT Code
- 81479
- ICD Code
- G24.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counseling session is recommended before sample collection to document family history, draw a pedigree chart of affected family members, and discuss the implications of testing. No fasting or special preparation is required. Inform the collecting healthcare provider about any recent blood transfusions or ongoing treatments.
Method: Venipuncture
Laboratory Analysis
A blood sample of approximately 3-5 mL will be collected via venipuncture from a vein in the arm using a sterile EDTA vacutainer. Alternatively, one drop of blood on an FTA card or an extracted DNA sample may be submitted. The procedure typically takes 5-10 minutes.
Report Delivery
Apply gentle pressure with a cotton ball or gauze at the puncture site for 3-5 minutes. A small bandage will be placed over the site. Mild bruising may occur and typically resolves within a few days. No activity restrictions are necessary after sample collection.
Timeline: Results are typically available within 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the HPCA Gene DYT2 NGS Genetic Test is to confirm or rule out a diagnosis of DYT2 dystonia by detecting pathogenic or likely pathogenic mutations in the HPCA gene. This test is critical for establishing a definitive molecular diagnosis in patients presenting with clinical features consistent with DYT2 dystonia, enabling differentiation from other genetic and non-genetic forms of dystonia. It facilitates informed genetic counseling, assessment of recurrence risk in families, carrier detection in at-risk relatives, and may guide treatment decisions. The test also supports research into the genetic basis of dystonia and contributes to a better understanding of the condition's natural history.
How to Prepare
- Ensure the patient or guardian has completed the pre-test genetic counseling session
- Provide complete clinical history and family pedigree information as documented during counseling
- Blood sample must be collected in an EDTA (Lavender Top) vacutainer
- If using FTA card, ensure proper spotting technique with one full drop of blood
- Label the sample correctly with patient details including name, date of birth, and test ordered
- Store the blood sample at ambient room temperature (2-25°C) and transport to the lab within 48 hours
- Avoid hemolysis by not shaking or vigorous mixing of the blood sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"DYT2 dystonia is a rare hereditary movement disorder that primarily affects the lower limbs and trunk during childhood or adolescence. Genetic confirmation through HPCA gene analysis using NGS technology is essential for definitive diagnosis, family counseling, and personalized treatment planning. I recommend this test for patients presenting with early-onset lower limb dystonia with a suspected autosomal recessive inheritance pattern."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or labeling
- Hemolyzed, clotted, or insufficient volume blood samples
- Sample collected in incorrect anticoagulant or container
- Sample received beyond stability period without prior notification
- Missing or incomplete clinical history and consent documentation
Understanding Your Results
Pathogenic Variant Detected
Confirms a molecular diagnosis of DYT2 dystonia. One or two pathogenic mutations in the HPCA gene were identified, consistent with autosomal recessive inheritance. Genetic counseling for the patient and family members is strongly recommended.
Likely Pathogenic Variant Detected
Strong evidence supports the association of the detected variant with DYT2 dystonia. Clinical correlation and family segregation studies are recommended for confirmation. Genetic counseling should be provided.
Variant of Uncertain Significance (VUS)
A genetic variant was identified but current evidence is insufficient to determine its clinical significance. This result cannot be used for diagnostic purposes. Follow-up testing, family studies, and periodic reclassification may be warranted.
Likely Benign Variant Detected
The detected variant is unlikely to be associated with DYT2 dystonia. This result does not confirm a diagnosis. Clinical evaluation for other causes of dystonia should continue.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the HPCA gene. This result does not entirely exclude a genetic cause of dystonia, as mutations in other genes may be responsible. Clinical follow-up and consideration of broader genetic testing panels may be appropriate.
Consult a neurologist or clinical geneticist if your test reveals a pathogenic or likely pathogenic variant in the HPCA gene, if a VUS is identified and you need clarification, if symptoms of dystonia are progressive or worsening, if you have a family history of dystonia and wish to discuss recurrence risk and family planning options, or if your test is negative but clinical symptoms persist, as additional genetic or diagnostic evaluation may be needed.
Limitations
- ⚠This test is limited to the analysis of the HPCA gene and does not screen for mutations in other dystonia-associated genes
- ⚠Deep intronic, regulatory, or promoter region variants may not be detected by this targeted NGS approach
- ⚠Large copy number variations (CNVs) and structural rearrangements may require complementary testing methods such as MLPA
- ⚠A negative result does not completely exclude a genetic basis for dystonia, as other genes may be involved
- ⚠Variants of uncertain significance (VUS) may be identified and may require further clinical correlation and family studies
Risks & Considerations
- ●Minor bruising or discomfort at the blood collection site, which usually resolves within a few days
- ●Very small risk of infection at the venipuncture site
- ●Emotional or psychological impact of receiving genetic test results, particularly if a pathogenic variant is identified
- ●Possibility of identifying variants of uncertain significance that may cause anxiety without providing a definitive answer
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample may affect sequencing accuracy
- ●Recent blood transfusions within the past 4 weeks may affect results due to donor DNA contamination
- ●Hemolyzed or improperly stored blood samples may yield suboptimal DNA extraction
- ●Presence of somatic mosaicism may result in variants being below the detection threshold
Compare With Similar Tests
| Test | HPCA Gene DYT2 NGS Genetic Test | Dystonia Comprehensive Gene Panel | Whole Exome Sequencing (WES) | TOR1A Gene (DYT1) Genetic Test |
|---|---|---|---|---|
| Comparison | HPCA Gene DYT2 NGS Genetic Test | The dystonia gene panel screens multiple genes simultaneously, including HPCA, TOR1A, THAP1, and others. It is broader in scope but may have higher cost. The HPCA Gene DYT2 test is targeted specifically for suspected DYT2 cases, offering focused and cost-effective analysis. | WES analyzes all protein-coding genes in the genome. It is useful when the specific genetic cause is unknown. The HPCA Gene DYT2 test is more targeted, faster, and more affordable when DYT2 dystonia is clinically suspected. | The TOR1A gene test targets DYT1 dystonia, another early-onset generalized dystonia. While DYT1 and DYT2 share some clinical features, DYT2 typically has autosomal recessive inheritance and predominantly affects the lower limbs. The specific gene tested depends on the clinical presentation. |
Frequently Asked Questions
What is the HPCA Gene DYT2 NGS Genetic Test?
What is DYT2 dystonia and how does it differ from other forms of dystonia?
Who should consider getting the HPCA Gene DYT2 NGS Genetic Test?
What type of sample is required for this genetic test?
How long does it take to get the results?
What does a positive test result mean?
What does a negative test result mean?
Is the blood collection procedure painful or risky?
Can children undergo this genetic test?
Is genetic counseling included with the test?
Will I receive raw genetic data along with my clinical report?
Is this test available across India with home sample collection?
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