OFD1 Gene Joubert syndrome type 10 NGS Genetic Test
Short Name: OFD1 Joubert Type 10 NGS
Also known as: OFD1 Gene Mutation Analysis, Joubert Syndrome Type 10 Genetic Panel, OFD1 NGS Sequencing Test, JBTS10 Genetic Test, OFD1 Ciliopathy Gene Test
OFD1 Gene Joubert syndrome type 10 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing (Confirmation), Bioinformatic Analysis, Variant Classification (ACMG Guidelines) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from the date of 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 purpose of this test is to identify pathogenic or likely pathogenic mutations in the OFD1 gene to confirm or rule out a diagnosis of Joubert Syndrome Type 10. It aids in establishing a molecular diagnosis, guiding clinical management, enabling carrier detection in family members, informing recurrence risk assessment for future pregnancies, and facilitating access to appropriate multidisciplinary care and genetic counseling services.
- Test Code
- 1648
- CPT Code
- 81479
- ICD Code
- Q04.3
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from the date of sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing (Confirmation), Bioinformatic Analysis, Variant Classification (ACMG Guidelines)
Sample Collection
A genetic counseling session is required prior to sample collection. The counselor will draw a pedigree chart of family members affected with or at risk for OFD1 Gene Joubert Syndrome Type 10. Clinical history of the patient, including neurological examination findings and neuroimaging reports, should be provided to the testing laboratory. No fasting is required. Inform the collection team about any recent blood transfusions.
Method: Venipuncture
Laboratory Analysis
A peripheral venous blood sample of 3-5 mL will be collected by a trained phlebotomist using standard venipuncture technique into an EDTA (lavender top) vacutainer. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The sample will be labeled with patient identifiers and barcoded for traceability.
Report Delivery
The blood sample will be transported to the DNA Labs India laboratory under controlled ambient temperature conditions. DNA extraction, library preparation, and NGS sequencing will be performed. Results are typically available within 3 to 4 weeks. The report will include variant interpretation, clinical significance, and recommendations. Raw Data, FASTQ, and VCF files will also be provided. A post-test genetic counseling session is recommended to discuss the findings.
Timeline: 3 to 4 Weeks from the date of sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the OFD1 gene to confirm or rule out a diagnosis of Joubert Syndrome Type 10. It aids in establishing a molecular diagnosis, guiding clinical management, enabling carrier detection in family members, informing recurrence risk assessment for future pregnancies, and facilitating access to appropriate multidisciplinary care and genetic counseling services.
How to Prepare
- Collect 3-5 mL peripheral venous blood in an EDTA (Lavender Top) vacutainer using aseptic venipuncture technique
- Alternatively, one drop of blood on an FTA card is acceptable
- Previously extracted DNA (minimum 50 ng/µL, 260/280 ratio 1.8-2.0) may be submitted
- Gently invert the EDTA tube 8-10 times immediately after collection to prevent clotting
- Label the sample with patient full name, date of birth, sample ID, and date of collection
- Do not freeze the whole blood sample; store at 2-8°C if not dispatched immediately
- Dispatch the sample to the laboratory within 48 hours of collection at ambient room temperature
- Include the signed consent form, requisition form, and clinical history summary with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Joubert Syndrome Type 10 caused by OFD1 gene mutations is an X-linked condition that warrants early genetic evaluation, particularly in families with a history of ciliopathy-related disorders or consanguinity. Prenatal or preconception genetic counseling is strongly recommended for carrier couples. Early molecular diagnosis using NGS technology enables timely multidisciplinary intervention involving neurology, ophthalmology, and developmental pediatrics, which can significantly improve long-term developmental outcomes for affected children."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without proper patient identification or requisition form
- Clotted EDTA sample
- Severely hemolyzed sample
- Sample collected more than 7 days prior without refrigeration
- Insufficient sample volume (less than 1 mL)
- Missing signed informed consent form
- Leaking or damaged sample container
Understanding Your Results
Pathogenic Variant Detected
One or more pathogenic mutations in the OFD1 gene have been identified. This result confirms a molecular diagnosis of Joubert Syndrome Type 10 (JBTS10) consistent with the clinical presentation. Genetic counseling and multidisciplinary management are strongly recommended. Family members may be offered targeted carrier testing.
Action: Consult with a clinical geneticist and neurologist for comprehensive management. Offer cascade carrier testing to at-risk family members.
Likely Pathogenic Variant Detected
One or more likely pathogenic variants in the OFD1 gene have been identified. While not definitively pathogenic, these variants have strong evidence supporting disease causation. Combined with compatible clinical features, this result supports a diagnosis of Joubert Syndrome Type 10.
Action: Clinical correlation is essential. Genetic counseling recommended. Consider segregation analysis in family members if possible.
Variant of Uncertain Significance (VUS)
A genetic variant in OFD1 has been detected, but current evidence is insufficient to classify it as pathogenic or benign. This result cannot be used to confirm or exclude a diagnosis of Joubert Syndrome Type 10.
Action: Clinical correlation is required. Re-evaluation of the variant classification may be performed as new scientific evidence becomes available. Additional genetic testing of family members may help clarify significance.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the OFD1 gene coding regions and flanking splice sites. This result does not fully exclude Joubert Syndrome, as mutations in other genes (such as AHI1, CEP290, TMEM67, CC2D2A, and others) can cause overlapping phenotypes.
Action: Consider expanded ciliopathy gene panel testing or whole exome sequencing if clinical suspicion remains high. Consult with a clinical geneticist for further evaluation.
Consult a clinical geneticist or neurologist if your child presents with persistent hypotonia (low muscle tone), unsteady gait or lack of coordination (ataxia), abnormal eye movements, delayed developmental milestones, or if brain MRI reveals cerebellar vermis hypoplasia or the molar tooth sign. Families with a known history of Joubert Syndrome or related ciliopathy disorders should seek genetic counseling before planning future pregnancies. If your test returns a Variant of Uncertain Significance (VUS), clinical correlation with a genetic specialist is essential for proper interpretation and management guidance.
Limitations
- ⚠This test is limited to the coding regions and flanking intronic sequences of the OFD1 gene; deep intronic, regulatory, or promoter region variants may not be detected
- ⚠Large genomic rearrangements, copy number variants, or structural variants may not be reliably detected by standard NGS sequencing alone
- ⚠Detection of a variant of uncertain significance (VUS) does not confirm or exclude a diagnosis
- ⚠Mosaicism at low allele frequencies below the analytical sensitivity threshold may not be detected
- ⚠This test does not screen for mutations in other Joubert Syndrome-associated genes such as AHI1, CEP290, TMEM67, CC2D2A, or RPGRIP1L
- ⚠Genetic heterogeneity exists; a negative result does not fully exclude Joubert Syndrome if mutations reside in other causative genes
Risks & Considerations
- ●Minimal risk associated with routine blood draw: minor bruising, discomfort, or swelling at the venipuncture site
- ●Risk of identifying variants of uncertain significance (VUS) that may cause anxiety without providing definitive diagnostic clarity
- ●Risk of incidental findings in genes analyzed for purposes other than the primary indication (if applicable)
- ●Potential psychological impact of a positive diagnosis on the patient and family members
- ●Risk of insurance or genetic discrimination in the absence of adequate legal protections, though India currently has evolving frameworks for genetic data privacy
Interfering Factors
- ●Degraded or low-quality DNA extracted from improperly stored blood samples may affect sequencing quality
- ●Recent blood transfusion within the past 4 weeks may lead to mixed genotype results
- ●Co-administered medications do not typically interfere with genetic testing
- ●Contamination during sample collection or transport may compromise results
- ●Hemolyzed or clotted blood samples may yield insufficient DNA quantity
Compare With Similar Tests
| Test | OFD1 Gene Joubert syndrome type 10 NGS Genetic Test | Joubert Syndrome Comprehensive Gene Panel (NGS) | Whole Exome Sequencing (WES) | Chromosomal Microarray Analysis (CMA) | Sanger Sequencing of OFD1 Gene | MLPA (Multiplex Ligation-dependent Probe Amplification) for OFD1 |
|---|---|---|---|---|---|---|
| Comparison | OFD1 Gene Joubert syndrome type 10 NGS Genetic Test |
Frequently Asked Questions
What is OFD1 Gene Joubert Syndrome Type 10?
What are the main symptoms of Joubert Syndrome Type 10?
How is Joubert Syndrome Type 10 diagnosed?
What is Next Generation Sequencing (NGS) technology?
What sample is required for the OFD1 Gene Joubert Syndrome Type 10 NGS Genetic Test?
How long does it take to get the test results?
What is the cost of the OFD1 Gene Joubert Syndrome Type 10 NGS Genetic Test in India?
Is the test available across India?
Is genetic counseling required before taking this test?
Can this test be performed during pregnancy?
What happens if the test result is positive for an OFD1 mutation?
Does DNA Labs India provide raw data files along with the clinical report?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.