EXOC8 Gene Joubert syndrome, EXOC8 related NGS Genetic Test
Short Name: EXOC8 NGS Genetic Test
Also known as: EXOC8 gene sequencing, EXOC8-targeted next-generation sequencing, Joubert syndrome EXOC8 genetic test, EXOC8 mutation analysis
EXOC8 Gene Joubert syndrome, EXOC8 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card samples. Results in Reports are generally delivered within 3 to 4 weeks from the date of sample receipt. The turnaround time may be longer in cases requiring repeat testing, additional confirmatory testing or VUS segregation studies.. 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 detect pathogenic or likely pathogenic sequence variants in the EXOC8 gene. It assists clinicians in confirming or supporting a diagnosis of EXOC8-related Joubert syndrome, enables risk-appropriate genetic counselling, helps clarify recurrence risk for the family and guides further clinical management.
- Test Code
- 4159
- CPT Code
- NA
- ICD Code
- NA
- Price
- ₹20,000
- Sample Type
- Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card
- Result Time
- Reports are generally delivered within 3 to 4 weeks from the date of sample receipt. The turnaround time may be longer in cases requiring repeat testing, additional confirmatory testing or VUS segregation studies.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. The ordering clinician should provide relevant clinical history, brain imaging findings and pedigree information. A genetic counselling session is part of the pre-test workup.
Method: Free home sample collection by trained phlebotomist or walk-in at collection centre
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL venous blood in an EDTA vacutainer. If an FTA card is used, one drop of blood is spotted onto the card and allowed to air dry. For extracted DNA samples, the DNA sample is submitted as per laboratory protocol.
Report Delivery
No specific precautions are needed after blood collection. The patient may resume normal daily activities immediately. An ice-pack or ambient transport condition may be recommended depending upon the sample type.
Timeline: Reports are generally delivered within 3 to 4 weeks from the date of sample receipt. The turnaround time may be longer in cases requiring repeat testing, additional confirmatory testing or VUS segregation studies.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic or likely pathogenic sequence variants in the EXOC8 gene. It assists clinicians in confirming or supporting a diagnosis of EXOC8-related Joubert syndrome, enables risk-appropriate genetic counselling, helps clarify recurrence risk for the family and guides further clinical management.
How to Prepare
- No fasting is required.
- Use an EDTA lavender top tube for blood collection.
- Do not use heparin as an anticoagulant.
- If FTA card is used, ensure the blood spot fills the marked circle and air dries completely.
- Label the sample with the patient's full name, date of birth and collection date.
- Transport the sample to the laboratory within 72 hours at 2-8°C for whole blood.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Joubert syndrome should be ordered only after a clinical indication has been identified by a doctor. A pre-test genetic counselling session helps the family understand the possible results, limitations and implications of the test."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample.
- Insufficient blood volume or inadequate FTA card spot.
- Improperly labelled or unlabelled sample.
- Leaking tube or contaminated FTA card.
- Sample received in heparin tube instead of EDTA.
Understanding Your Results
Pathogenic variant detected
Likely pathogenic variant detected
Variant of uncertain significance (VUS) detected
No pathogenic/likely pathogenic variant detected
Consult a paediatric neurologist, clinical geneticist or obstetrician if the child has hypotonia, ataxia, developmental delay, abnormal eye movements, breathing abnormalities in infancy, or if there is a family history of Joubert syndrome. Genetic testing should be performed after expert clinical review and counselling.
Limitations
- ⚠A negative result does not rule out Joubert syndrome, as pathogenic variants may exist in other genes.
- ⚠This targeted test analyses only the EXOC8 gene and not the entire Joubert syndrome/ciliopathy gene panel.
- ⚠Variants of uncertain significance may be reported; these require further segregation studies and clinical correlation.
- ⚠This test may not detect all types of mutations, including large copy number variants, deep intronic pathogenic variants, methylation changes or structural rearrangements.
- ⚠Result interpretation should always be performed in the context of clinical, radiological and family history data.
Risks & Considerations
- ●There are no significant physical risks from blood collection except minor pain, bruising or very rare infection at the puncture site.
- ●Genetic test results may cause psychological stress or uncertainty.
- ●The test may identify variants of uncertain clinical significance.
- ●There may be familial implications for other blood relatives.
Interfering Factors
- ●Poor DNA quality or insufficient DNA quantity.
- ●Contamination of sample during collection or handling.
- ●Maternal cell contamination in prenatal or perinatal samples.
- ●Technical difficulty in sequencing GC-rich or repetitive regions of the gene.
- ●Large exonic deletions/duplications, deep intronic variants, structural rearrangements and repeat expansions may not be reliably detected by standard NGS.
Compare With Similar Tests
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| Comparison | EXOC8 Gene Joubert syndrome, EXOC8 related NGS Genetic Test |
Frequently Asked Questions
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