ROBO3 Gene Gaze palsy, horizontal, with progressive scoliosis NGS Genetic Test
Short Name: ROBO3 Gene NGS Genetic Test
Also known as: ROBO3 Gene Sequencing, HGPPS Genetic Test, Horizontal Gaze Palsy with Progressive Scoliosis NGS Test
ROBO3 Gene Gaze palsy, horizontal, with progressive scoliosis 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 from sample receipt at the lab.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 3, 2026
Overview
This test is performed to identify pathogenic variants in the ROBO3 gene that cause Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS). It helps confirm a clinical diagnosis, guide genetic counseling, and assess recurrence risk.
- Test Code
- 4097
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt at the lab.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is needed. If you are taking anticoagulant therapy, please consult your doctor. It is recommended to have a genetic counseling session before testing.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A small volume of blood (2 ml) is collected from a vein in the arm. If using FTA card, a few drops of blood are placed on the card.
Report Delivery
No restrictions after sample collection. You may resume normal activities.
Timeline: 3 to 4 weeks from sample receipt at the lab.
Patient Instructions
About This Test
Who Should Get This Test
This test is performed to identify pathogenic variants in the ROBO3 gene that cause Horizontal Gaze Palsy with Progressive Scoliosis (HGPPS). It helps confirm a clinical diagnosis, guide genetic counseling, and assess recurrence risk.
How to Prepare
- Blood sample in an EDTA tube (2 ml).
- Alternatively, 5 µg of extracted DNA in a sterile Eppendorf tube.
- FTA card: apply one drop of blood onto the card and let it dry.
- Label the sample tube or card with patient's name and unique ID.
- Ship the sample at ambient temperature as per the courier guidelines.
- Free home sample collection is available in over 100 cities across India. Please book online to avail.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for HGPPS is crucial for accurate diagnosis and reproductive planning. Families with a history of ROBO3 mutations should seek genetic counseling."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample if EDTA tube is not used
- Inadequate volume
- Improperly labeled sample
- Samples not reaching laboratory in appropriate conditions
Understanding Your Results
Pathogenic variant detected
Action: Confirms the diagnosis. Genetic counseling and family screening are recommended.
Likely pathogenic variant detected
Action: Considered strong evidence for diagnosis. Further family cosegregation analysis may be helpful.
Variant of uncertain significance (VUS)
Action: Inconclusive; clinical correlation and additional testing may be required.
No pathogenic variant identified
Action: Does not rule out HGPPS; consider other genetic causes or clinical re-evaluation.
Consult a neurologist or geneticist if you or your child have difficulty moving the eyes horizontally, scoliosis, or delayed motor development. A doctor may recommend genetic testing based on clinical suspicion.
Limitations
- ⚠This test only analyzes the ROBO3 gene; other genetic etiologies for horizontal gaze palsy are not evaluated.
- ⚠Large deletions/duplications or deep intronic variants may not be detected by standard NGS. Additional tests may be required.
- ⚠The test does not determine the severity or progression of scoliosis.
Risks & Considerations
- ●Minimal risk of bleeding, infection or bruising at the venipuncture site
- ●No major risks associated with FTA card blood collection
Interfering Factors
- ●Low DNA quality or quantity
- ●Sample contamination
- ●Presence of potentially interfering maternal cell contamination
- ●Mislabeling or sample mix-up
Frequently Asked Questions
What is the cost of the ROBO3 gene NGS genetic test at DNA Labs India?
Which sample is required for this test?
Is fasting required for the ROBO3 gene NGS test?
How will I receive the test report?
How long does the ROBO3 gene NGS genetic test take?
Does the test involve any pain or risk?
Can this test confirm Horizontal Gaze Palsy with Progressive Scoliosis?
Is genetic counseling included with the test?
What is the difference between this NGS test and Sanger sequencing?
Will I get raw data files with the report?
Do you provide home sample collection?
What should I do if a pathogenic mutation is found?
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