ROBO3 Gene Gaze Palsy, Horizontal, with Progressive Scoliosis NGS Genetic Test
Short Name: ROBO3 NGS Genetic Test
Also known as: HGPPS NGS Test, ROBO3 Gene Sequencing Test, Horizontal Gaze Palsy Progressive Scoliosis Genetic 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 Reports are typically dispatched within 3 to 4 weeks. The report will be accessible via the online portal, email, and WhatsApp.. 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
To detect disease-causing variants in the ROBO3 gene associated with horizontal gaze palsy with progressive scoliosis, and to provide molecular confirmation for accurate genetic counseling and clinical management.
- Test Code
- 3827
- CPT Code
- N/A
- ICD Code
- N/A
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically dispatched within 3 to 4 weeks. The report will be accessible via the online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please carry any available clinical records, MRI reports, prior eye movement test reports, scoliosis X-rays, and the referring clinician’s prescription.
Method: Peripheral venipuncture or FTA card blood spot
Laboratory Analysis
A small blood sample is collected by venipuncture. If using an FTA card, one drop of blood is applied to the card and allowed to dry before packing.
Report Delivery
No specific precautions are required. The sample is transported to the laboratory under appropriate conditions.
Timeline: Reports are typically dispatched within 3 to 4 weeks. The report will be accessible via the online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
To detect disease-causing variants in the ROBO3 gene associated with horizontal gaze palsy with progressive scoliosis, and to provide molecular confirmation for accurate genetic counseling and clinical management.
How to Prepare
- No fasting is required before sample collection.
- If whole blood is provided, it should be collected in an EDTA vacutainer.
- FTA card blood spot must be completely dry before packing.
- Please provide the clinician’s referral or clinical history of gaze palsy and scoliosis.
- Online bookings include free home sample collection across selected cities.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Although the presenting features are neurological and ophthalmic, the underlying cause is genetic. Pretest genetic counseling and post-test pedigree interpretation are important for patients considering family planning and recurrence-risk assessment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood when EDTA sample was requested
- Sample with incorrect patient identification
- Leaking or damaged sample container
- Insufficient sample volume for DNA extraction
Understanding Your Results
No pathogenic variant detected
Negative result; ROBO3-related HGPPS is less likely, but it does not exclude a variant in another gene or in non-coding regulatory regions.
Pathogenic or likely pathogenic variant detected
Positive result; supports molecular diagnosis of ROBO3-related horizontal gaze palsy with progressive scoliosis.
Variant of uncertain significance (VUS) detected
Inconclusive result; additional family segregation testing or functional studies may be required to clarify the variant's role.
Consult a clinical geneticist, ophthalmologist, or neurologist if you or your child has horizontal gaze palsy with progressive scoliosis, or after receiving this test report for personalized genetic counseling and management.
Limitations
- ⚠This test is not a whole-genome analysis and may not detect deep intronic variants or large structural rearrangements in all cases
- ⚠Variants of uncertain significance may require additional familial segregation testing
- ⚠A negative result does not exclude a genetic cause in another gene
- ⚠Interpretation is based on current medical literature and ACMG guidelines
Risks & Considerations
- ●Minimal risk of bruising at the venipuncture site
- ●Slight discomfort during blood draw
- ●Rare vasovagal reaction during blood collection
Interfering Factors
- ●Contamination of the DNA sample during collection or processing
- ●Low DNA yield or degraded DNA may reduce sequencing coverage
- ●Incomplete clinical history may limit interpretation of variant significance
Compare With Similar Tests
| Test | ROBO3 Gene Gaze Palsy, Horizontal, with Progressive Scoliosis NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | ROBO3 Gene Gaze Palsy, Horizontal, with Progressive Scoliosis NGS Genetic Test | Single-gene testing is focused and economical for patients with classic HGPPS features, while a broad panel may identify other genes with overlapping phenotypes. | NGS detects small sequence variants in ROBO3, whereas CMA detects large copy-number changes. Both tests are often complementary in complex presentations. | Whole exome sequencing is a broader test that may be useful if the clinical picture is atypical or if ROBO3 sequencing is negative. |
Frequently Asked Questions
What is the ROBO3 gene?
What is horizontal gaze palsy with progressive scoliosis (HGPPS)?
Why is NGS genetic testing used for this condition?
What sample is needed for the ROBO3 NGS test?
Does this test require fasting?
How long does it take to get results?
What does a positive test result mean?
What does a negative test result mean?
What is the cost of the ROBO3 NGS Genetic Test at DNA Labs India?
Why are raw data FASTQ and VCF files important?
Is genetic counseling needed before the test?
Can this test be used for prenatal diagnosis?
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