ARL13B Gene Joubert syndrome type 8 NGS Genetic Test
Short Name: ARL13B NGS Genetic Test
Also known as: ARL13B gene mutation test, Joubert syndrome type 8 genetic test, ARL13B next-generation sequencing, ARL13B ciliopathy genetic test
ARL13B Gene Joubert syndrome type 8 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 generally delivered within 3 to 4 weeks from 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 test is to identify disease-causing sequence variants in the ARL13B gene, which are associated with Joubert syndrome type 8. It helps confirm a clinical suspicion, supports genetic counselling, clarifies recurrence risk, and distinguishes ARL13B-related Joubert syndrome from other ciliopathies and neurological conditions.
- Test Code
- 4155
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally delivered within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. A pretest genetic counselling session is required to draw a pedigree chart and discuss the purpose, benefits, and limitations of the test. Please carry previous clinical records, imaging reports, and any known family genetic results.
Method: Peripheral blood draw / FTA blood spot / extracted DNA submission
Laboratory Analysis
A small blood sample will be collected from a vein in a labeled vial. If using an FTA card, one drop of blood is applied onto the card and allowed to dry. If extracted DNA is submitted, it should be clearly labeled with the patient identifier.
Report Delivery
You can resume normal activities immediately. The sample should be transported at ambient room temperature to the laboratory. Reports are generally issued in 3 to 4 weeks after sample receipt.
Timeline: Reports are generally delivered within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify disease-causing sequence variants in the ARL13B gene, which are associated with Joubert syndrome type 8. It helps confirm a clinical suspicion, supports genetic counselling, clarifies recurrence risk, and distinguishes ARL13B-related Joubert syndrome from other ciliopathies and neurological conditions.
How to Prepare
- No fasting is required
- Blood may be collected at any time of the day
- For FTA card, apply one drop of blood on the marked circle and air dry
- If sending extracted DNA, use a properly labeled sterile tube
- Carry the test requisition form and any available family pedigree
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Joubert syndrome should be integrated with clinical evaluation and brain imaging. In families planning pregnancy or those with a known ARL13B variant, obstetricians work closely with clinical geneticists to interpret recurrence risk and available reproductive options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Incorrectly labeled or unaccompanied sample
- Hemolyzed or clotted blood sample
- Insufficient sample quantity
- Sample submitted in an inappropriate container
- Severely degraded DNA
Understanding Your Results
Negative
No pathogenic or likely pathogenic variant detected in the ARL13B gene. This reduces the likelihood of ARL13B-related Joubert syndrome type 8 but does not exclude other genetic causes of Joubert syndrome.
Positive
A pathogenic or likely pathogenic variant in the ARL13B gene was identified. This provides molecular confirmation of ARL13B-related Joubert syndrome type 8 and supports informed genetic counselling.
Variant of uncertain significance (VUS)
A rare sequence change was detected, but its clinical significance is not yet established. Additional family studies, functional evidence, and clinical correlation may be needed before reclassification.
Consult a neurologist, pediatric neurologist, or clinical geneticist if you or a family member has features such as hypotonia, ataxia, abnormal eye movements, abnormal breathing pattern, intellectual disability, or developmental delay. Timely genetic diagnosis can guide management, surveillance, and family counselling.
Limitations
- ⚠This test only targets the ARL13B gene and does not exclude other genes causing Joubert syndrome
- ⚠NGS may not identify all types of disease-causing variants
- ⚠Variants of uncertain significance may require additional family member studies
- ⚠Genetic results should always be interpreted with clinical features, brain imaging, and genetic counselling
Risks & Considerations
- ●Minor pain, bruising, or bleeding at the venipuncture site
- ●Rare risk of local infection
- ●Possible psychological stress from a genetic result
- ●Results may have implications for other family members
Interfering Factors
- ●Hemolysed or clotted blood samples may affect DNA extraction quality
- ●Insufficient sample quantity can lead to inadequate sequencing coverage
- ●Standard NGS may not detect large deletions, duplications, repeat expansions or structural variants
- ●Low-level somatic mosaicism may be below the detection threshold
- ●Contaminated or degraded DNA may reduce test accuracy
Compare With Similar Tests
| Test | ARL13B Gene Joubert syndrome type 8 NGS Genetic Test | Targeted ARL13B NGS test | Joubert syndrome NGS panel | Whole exome sequencing |
|---|---|---|---|---|
| Comparison | ARL13B Gene Joubert syndrome type 8 NGS Genetic Test |
Frequently Asked Questions
What is the ARL13B gene Joubert syndrome type 8 NGS genetic test?
What does the ARL13B gene do?
What are the symptoms of Joubert syndrome type 8?
How is Joubert syndrome type 8 diagnosed?
Why is NGS preferred for this test?
What sample is required for the ARL13B NGS genetic test?
Is fasting required before the test?
How much does the ARL13B gene Joubert syndrome type 8 NGS genetic test cost?
How long do the reports take?
What if the test identifies a variant of uncertain significance?
Can this test detect all causes of Joubert syndrome?
Is genetic counselling required before this test?
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