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AHI1 Gene Joubert syndrome type 3 NGS Genetic Test

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AHI1 Gene Joubert syndrome type 3 NGS Genetic Test

Short Name: AHI1 Gene JBTS3 NGS Test

Also known as: JBTS3 Genetic Test, AHI1 Mutation Analysis, Joubert Syndrome Type 3 DNA Test, AHI1 Gene Sequencing Test, AHI1 Gene NGS Panel

AHI1 Gene Joubert syndrome type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Detected Variants, Bioinformatics Pipeline Analysis on Blood samples. Results in Results are typically available within 3 to 4 weeks from the date of sample collection. Digital reports are delivered through the DNA Labs India online portal, email, and WhatsApp. In complex cases requiring additional variant confirmation or family segregation studies, the turnaround time may be extended. Patients will be notified when their report is ready.. Free home collection in 300+ cities across India.

NGS Genetic TestUnisexAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The AHI1 Gene Joubert Syndrome Type 3 NGS Genetic Test is performed to identify pathogenic or likely pathogenic mutations in the AHI1 gene that cause Joubert Syndrome Type 3. This test aids in confirming a clinical diagnosis when neuroimaging and clinical features suggest Joubert syndrome, differentiating JBTS3 from other genetic subtypes of Joubert syndrome, identifying asymptomatic carriers within families, enabling informed genetic counselling for family planning and recurrence risk assessment, and facilitating prenatal or preimplantation genetic diagnosis in families with known AHI1 mutations.

Test Code
1653
CPT Code
81479
ICD Code
Q04.3
Price
₹20,000
Sample Type
Blood
Result Time
Results are typically available within 3 to 4 weeks from the date of sample collection. Digital reports are delivered through the DNA Labs India online portal, email, and WhatsApp. In complex cases requiring additional variant confirmation or family segregation studies, the turnaround time may be extended. Patients will be notified when their report is ready.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation of Detected Variants, Bioinformatics Pipeline Analysis
Step 1

Sample Collection

A genetic counselling session is required prior to sample collection. During this session, the clinical history of the patient will be reviewed, and a pedigree chart of family members affected with or at risk for Joubert Syndrome Type 3 will be constructed. No fasting is required. No special preparation is necessary for the blood draw. Inform the healthcare provider about any recent blood transfusions, current medications, or anticoagulant therapy.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect approximately 3 to 5 mL of venous blood from a vein in the arm using standard venipuncture technique. The blood will be transferred to an EDTA (Lavender Top) vacutainer. The collection procedure typically takes less than 5 minutes and involves minimal discomfort similar to a routine blood draw.

Step 3

Report Delivery

After blood collection, gentle pressure will be applied to the puncture site using a cotton ball or gauze pad. Minor bruising at the collection site is normal and resolves within a few days. The sample will be properly labeled, stored at ambient room temperature, and transported to the DNA Labs India testing facility under controlled conditions. Reports will be available within 3 to 4 weeks through the online portal, email, or WhatsApp.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample collection. Digital reports are delivered through the DNA Labs India online portal, email, and WhatsApp. In complex cases requiring additional variant confirmation or family segregation studies, the turnaround time may be extended. Patients will be notified when their report is ready.

Patient Instructions

1
Before the Test:A mandatory genetic counselling session will be conducted before sample collection. During this session, a detailed clinical history of the patient will be reviewed, and a pedigree chart of family members affected with or at risk for Joubert Syndrome Type 3 will be drawn. No fasting is required. Bring all relevant medical documents including MRI reports, previous genetic test results, and clinical notes from your treating neurologist or geneticist.
2
During the Test:A blood sample of approximately 3 to 5 mL will be collected via standard venipuncture from a vein in the arm. The sample is placed in an EDTA (Lavender Top) vacutainer and labeled with patient identifiers. The entire collection process takes less than 5 minutes. The sample is then transported under controlled ambient conditions to the DNA Labs India laboratory for NGS analysis.
3
After the Test:After blood collection, gentle pressure will be applied to the puncture site. Minor bruising may occur and typically resolves within a few days. No restrictions on normal activities are required. The laboratory will perform next-generation sequencing, bioinformatics analysis, and Sanger confirmation of any detected variants. Results will be available within 3 to 4 weeks and delivered via the online portal, email, or WhatsApp. A post-test genetic counselling session is strongly recommended to interpret the findings.

About This Test

Who Should Get This Test

The AHI1 Gene Joubert Syndrome Type 3 NGS Genetic Test is performed to identify pathogenic or likely pathogenic mutations in the AHI1 gene that cause Joubert Syndrome Type 3. This test aids in confirming a clinical diagnosis when neuroimaging and clinical features suggest Joubert syndrome, differentiating JBTS3 from other genetic subtypes of Joubert syndrome, identifying asymptomatic carriers within families, enabling informed genetic counselling for family planning and recurrence risk assessment, and facilitating prenatal or preimplantation genetic diagnosis in families with known AHI1 mutations.

How to Prepare

  • Ensure a genetic counselling session has been completed before sample collection
  • No fasting is required prior to sample collection
  • Bring a valid government-issued photo ID and the test requisition form
  • Provide complete clinical history and family pedigree information
  • Inform the phlebotomist about any blood transfusions received in the past 4 weeks
  • Bring previous MRI reports, clinical notes, or genetic test reports if available
  • Wear clothing with loose sleeves to facilitate easy blood draw from the arm

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Joubert Syndrome Type 3 is a rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the AHI1 gene. Early molecular diagnosis through NGS technology is critical for confirming the clinical diagnosis, especially when neuroimaging reveals the characteristic molar tooth sign. Genetic testing not only establishes a definitive diagnosis but also enables accurate carrier identification in family members and informs reproductive decision-making. I recommend this test for any patient presenting with hypotonia, ataxia, abnormal eye movements, and characteristic cerebellar and brainstem malformations on MRI. Families should receive comprehensive genetic counselling before and after testing to understand the inheritance pattern, recurrence risks, and potential implications of variant findings."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume3 to 5 mL
ContainerEDTA (Lavender Top) Vacutainer
Collection MethodVenipuncture

Sample Stability

EDTA Blood at Ambient Temperature (15-25°C)
EDTA Blood at 2-8°C (Refrigerated)
Extracted DNA at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Samples collected in incorrect container (non-EDTA tubes)
  • Insufficient sample volume (less than 2 mL)
  • Samples without proper identification labels or requisition forms
  • Samples received more than 72 hours post-collection at ambient temperature without cold chain documentation
  • Leaked or damaged sample containers compromising sample integrity

Understanding Your Results

The results of the AHI1 Gene Joubert Syndrome Type 3 NGS Genetic Test will indicate whether pathogenic or likely pathogenic variants were identified in the AHI1 gene. Results should be interpreted in the context of the patient's clinical presentation, family history, and neuroimaging findings. Genetic counselling is essential both before and after testing to ensure proper understanding of the results and their implications.
📊

No disease-causing mutations were identified in the AHI1 gene. This result does not completely rule out Joubert syndrome, as mutations in other genes (TMEM67, CEP290, CC2D2A, and others) can also cause the condition. Clinical correlation and consideration of additional genetic testing including gene panels or whole exome sequencing may be recommended.

📊

Two copies of a pathogenic or likely pathogenic variant were identified in the AHI1 gene, consistent with autosomal recessive inheritance. This finding supports a molecular diagnosis of Joubert Syndrome Type 3. Parents are expected to be heterozygous carriers. Genetic counselling is recommended for the family.

📊

Two different pathogenic or likely pathogenic variants were identified on separate alleles of the AHI1 gene. This compound heterozygous state is consistent with a molecular diagnosis of Joubert Syndrome Type 3. Each parent is expected to carry one of the identified variants. Genetic counselling and family testing are recommended.

📊

A single pathogenic or likely pathogenic variant was identified in one allele of the AHI1 gene. The individual may be an asymptomatic carrier. If clinical suspicion for JBTS3 is high, a second variant may reside in a region not covered by this test (deep intronic, regulatory, or large rearrangement). Additional testing such as deletion/duplication analysis or whole exome sequencing may be considered.

📊

A variant with insufficient evidence to classify as pathogenic or benign was detected. This result is not diagnostic. Family segregation studies, functional analysis, and clinical correlation are recommended. The variant classification may be updated as additional scientific evidence becomes available. Genetic counselling is advised to discuss the implications.

⚠️ When to Consult a Doctor:

Consult your healthcare provider or clinical geneticist if your child exhibits symptoms such as low muscle tone (hypotonia), uncoordinated movements (ataxia), abnormal breathing patterns, abnormal eye movements, or developmental delays. If neuroimaging reveals a molar tooth sign or cerebellar vermis hypoplasia, genetic testing should be discussed. Additionally, consult a genetic specialist if there is a family history of Joubert syndrome or related ciliopathies, or if you are planning a pregnancy and are known carriers of AHI1 mutations. If a variant of uncertain significance (VUS) is identified, seek genetic counselling for appropriate interpretation and follow-up recommendations.

Limitations

  • ⚠This test specifically targets the AHI1 gene and may not detect mutations in other genes associated with Joubert syndrome (e.g., TMEM67, CEP290, CC2D2A, RPGRIP1L)
  • ⚠Large genomic rearrangements, deep intronic variants, or regulatory region mutations may not be fully detected by standard NGS coding region analysis
  • ⚠Variants of Uncertain Significance (VUS) may be identified and may require further family studies or functional analysis for classification
  • ⚠Results do not predict disease severity, age of onset, or specific clinical outcomes for the individual
  • ⚠Mosaicism at low levels may not be reliably detected by this testing methodology
  • ⚠This test is not designed to detect epigenetic or mitochondrial DNA variants

Risks & Considerations

  • ●Minor pain, bruising, or swelling at the blood collection site, which typically resolves within a few days
  • ●Very small risk of infection at the venipuncture site, minimized by standard sterile collection procedures
  • ●Psychological impact of receiving genetic test results, for which pre- and post-test genetic counselling is strongly recommended
  • ●Possibility of identifying variants of uncertain significance (VUS) that may cause anxiety without providing a definitive diagnosis

Interfering Factors

  • ●Recent blood transfusion within the past 4 weeks may affect DNA analysis results
  • ●Highly degraded DNA due to improper sample storage or transport conditions
  • ●Co-administered anticoagulant therapy other than EDTA may interfere with DNA extraction quality
  • ●Sample contamination during collection or transport may compromise sequencing accuracy

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Frequently Asked Questions

What is the AHI1 Gene Joubert Syndrome Type 3 NGS Genetic Test?
The AHI1 Gene Joubert Syndrome Type 3 NGS Genetic Test is a next-generation sequencing-based molecular diagnostic test that analyzes the entire coding region of the AHI1 gene to detect mutations (pathogenic variants) associated with Joubert Syndrome Type 3. It identifies single nucleotide variants, small insertions, deletions, and splice-site mutations with high accuracy. Detected variants are confirmed using Sanger sequencing.
What is Joubert Syndrome Type 3 and what causes it?
Joubert Syndrome Type 3 (JBTS3) is a rare autosomal recessive neurodevelopmental disorder classified as a ciliopathy. It is caused by biallelic (homozygous or compound heterozygous) pathogenic variants in the AHI1 gene on chromosome 6q23.3. The condition affects brain development, particularly the cerebellum and brainstem, resulting in the characteristic molar tooth sign on MRI. Clinical features include hypotonia, ataxia, abnormal breathing patterns, oculomotor apraxia, intellectual disability, and in some cases, renal, hepatic, or ocular abnormalities.
How is the AHI1 gene related to Joubert Syndrome Type 3?
The AHI1 gene encodes a protein called Jouberin, which is essential for the normal function of primary cilia, Wnt signaling, and neuronal migration during brain development. When both copies of the AHI1 gene carry pathogenic variants, the resulting protein dysfunction disrupts ciliary signaling pathways, leading to the characteristic brain malformations and clinical features of Joubert Syndrome Type 3.
What sample is required for this genetic test?
This test requires a blood sample of approximately 3 to 5 mL collected in an EDTA (Lavender Top) vacutainer. The sample is obtained through standard venipuncture. No fasting is required prior to sample collection. The blood sample is used to extract DNA, which is then analyzed using next-generation sequencing technology.
Is genetic counselling required before taking this test?
Yes, a genetic counselling session is mandatory before undergoing this test. During the session, a qualified genetic counsellor or clinical geneticist will review the patient's clinical history, construct a pedigree chart of affected and unaffected family members, explain the test procedure, discuss potential outcomes and their implications, and obtain informed consent. This ensures that the patient and family fully understand the purpose, benefits, and limitations of genetic testing.
What is the cost of the AHI1 Gene Joubert Syndrome Type 3 NGS Genetic Test?
The cost of the AHI1 Gene Joubert Syndrome Type 3 NGS Genetic Test at DNA Labs India is Rs 20000. This price includes home sample collection (available in over 250 cities across India), genetic counselling support, NGS sequencing, bioinformatics analysis, Sanger confirmation of detected variants, and delivery of the digital report through the online portal, email, or WhatsApp.
How long does it take to receive the test results?
The test results are typically available within 3 to 4 weeks from the date of sample collection. The report includes detailed variant findings, ACMG classification, clinical interpretation, and recommendations. Results are delivered through the DNA Labs India online portal, email, and WhatsApp. In complex cases requiring additional variant confirmation or family studies, the turnaround time may be slightly extended.
Can this test be used for prenatal diagnosis?
Yes, if pathogenic variants in the AHI1 gene have been previously identified in an affected family member, prenatal diagnosis can be performed using chorionic villus sampling (CVS) or amniocentesis samples. Preimplantation genetic testing (PGT) may also be an option for families undergoing in vitro fertilization (IVF). Consult your clinical geneticist or reproductive genetic counsellor to discuss prenatal testing options appropriate for your family situation.
What does a negative test result mean?
A negative result indicates that no pathogenic or likely pathogenic variants were identified in the AHI1 gene. However, this does not completely exclude Joubert syndrome, as the condition can also be caused by mutations in other genes including TMEM67, CEP290, CC2D2A, RPGRIP1L, and several others. If clinical suspicion remains high, your healthcare provider may recommend additional genetic testing such as a broader Joubert syndrome gene panel, whole exome sequencing (WES), or whole genome sequencing (WGS).
Can carriers of AHI1 gene mutations show symptoms?
Joubert Syndrome Type 3 follows autosomal recessive inheritance, meaning that carriers (individuals with only one pathogenic variant in the AHI1 gene) are typically unaffected and do not show symptoms of the condition. However, carriers can pass the variant to their offspring. If both parents are carriers, there is a 25% chance with each pregnancy that the child will inherit both pathogenic variants and be affected with JBTS3.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the AHI1 Gene Joubert Syndrome Type 3 NGS Genetic Test. Home collection is available in over 250 cities across India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, Jaipur, Lucknow, Chandigarh, and many more. You can book a home collection online, and a trained phlebotomist will visit your location at a scheduled time to collect the blood sample.
What is the molar tooth sign and how is it related to this test?
The molar tooth sign is a characteristic finding on brain MRI observed in individuals with Joubert syndrome. It is named for the resemblance of the midbrain to a molar tooth when viewed on axial MRI images, caused by deepened interpeduncular fossa, thickened and elongated superior cerebellar peduncles, and cerebellar vermis hypoplasia. While the molar tooth sign is a strong clinical indicator of Joubert syndrome, genetic testing including the AHI1 gene NGS test is needed to confirm the specific genetic subtype, identify the causative mutations, and enable accurate genetic counselling and family planning.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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