JAG2 Gene Craniofacial and neuro-developmental abnormalities, JAG2 related NGS Genetic Test
Short Name: JAG2 Gene NGS Test
Also known as: JAG2 Mutation Analysis, Jagged2 Gene Sequencing Test, JAG2 NGS Sequencing, JAG2 Genetic Screening
JAG2 Gene Craniofacial and neuro-developmental abnormalities, JAG2 related 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 3 to 4 Weeks. 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 the JAG2 Gene NGS Genetic Test is to detect pathogenic or likely pathogenic mutations in the JAG2 gene that are responsible for craniofacial and neuro-developmental abnormalities. This test aids in confirming a clinical diagnosis, identifying carriers within families, guiding treatment and management decisions, informing genetic counseling regarding recurrence risks, and supporting family planning decisions.
- Test Code
- 5744
- CPT Code
- 81479
- ICD Code
- Q75.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. A genetic counseling session is recommended prior to sample collection to document the patient's clinical history, draw a family pedigree chart, and assess the indication for testing. Provide any previous genetic test reports or relevant medical records.
Method: Venipuncture or FTA Card Spot
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood via venipuncture into an EDTA (lavender-top) tube. Alternatively, one drop of blood may be applied to an FTA card. The sample will be labeled with the patient's details and transported to the laboratory under appropriate conditions.
Report Delivery
Apply gentle pressure at the venipuncture site with a cotton ball or gauze for 3-5 minutes. Avoid heavy lifting with the affected arm for a few hours. Results will be available within 3 to 4 weeks. A follow-up genetic counseling session is recommended to discuss the findings and their clinical implications.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the JAG2 Gene NGS Genetic Test is to detect pathogenic or likely pathogenic mutations in the JAG2 gene that are responsible for craniofacial and neuro-developmental abnormalities. This test aids in confirming a clinical diagnosis, identifying carriers within families, guiding treatment and management decisions, informing genetic counseling regarding recurrence risks, and supporting family planning decisions.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender-top) tube
- Alternatively, apply one drop of blood on an FTA card and allow it to dry completely
- Label the sample clearly with the patient's full name, date of birth, and unique identification number
- Transport the sample at ambient room temperature to the laboratory
- Avoid hemolysis during blood collection
- Ensure the EDTA tube is gently inverted 8-10 times after collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"JAG2 gene mutations, though rare, can present with a spectrum of craniofacial and neuro-developmental findings that may be identified during routine prenatal or neonatal assessments. Early genetic testing using NGS technology allows for accurate molecular diagnosis, which is essential for guiding multidisciplinary management, providing appropriate developmental support, and offering informed genetic counseling to families regarding recurrence risks and reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume (less than 2 mL)
- Sample collected in incorrect container (non-EDTA tube)
- Unlabeled or mislabeled sample
- Sample contaminated or improperly stored
Understanding Your Results
Pathogenic Variant Detected
A disease-causing mutation in the JAG2 gene has been identified. This result is consistent with JAG2-related craniofacial and neuro-developmental abnormalities. Clinical correlation is essential. Genetic counseling is strongly recommended for the patient and family members to discuss implications, management options, and recurrence risks.
Likely Pathogenic Variant Detected
A variant that is likely responsible for the patient's condition has been found in the JAG2 gene. Further clinical evaluation, family segregation studies, and functional analysis may be warranted to strengthen the pathogenicity classification.
Variant of Uncertain Significance (VUS)
A genetic variant in the JAG2 gene was detected, but current evidence is insufficient to classify it as pathogenic or benign. This result should not be used alone for clinical decision-making. Follow-up testing, family studies, and periodic reclassification are recommended.
Likely Benign Variant Detected
A variant was detected that is unlikely to be associated with the patient's clinical presentation. This finding is generally considered non-contributory to the disease phenotype.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the JAG2 gene. This result does not completely exclude a genetic etiology for the patient's condition, as mutations in other genes or undetectable structural variants may be responsible. Further genetic evaluation may be considered.
Consult a clinical geneticist or your referring physician if the test detects a pathogenic or likely pathogenic variant, if a variant of uncertain significance is identified, if clinical symptoms persist despite a negative result, or if you require guidance on family planning, recurrence risk assessment, or developmental management for the affected individual.
Limitations
- ⚠This test analyzes only the JAG2 gene and does not screen for mutations in other genes associated with craniofacial or neuro-developmental disorders
- ⚠Deep intronic mutations and regulatory region variants outside the coding sequence may not be detected
- ⚠The test may detect variants of uncertain significance (VUS) whose clinical relevance is currently unknown
- ⚠Structural rearrangements such as balanced translocations may not be fully captured by NGS
- ⚠A negative result does not completely exclude a genetic etiology for the patient's condition
Risks & Considerations
- ●Minimal risk associated with standard blood draw, including minor bruising or discomfort at the puncture site
- ●Rare risk of infection at the venipuncture site
- ●Psychological impact of receiving genetic test results, particularly if pathogenic variants are identified
- ●Risk of identifying variants of uncertain significance, which may cause anxiety without providing definitive answers
Interfering Factors
- ●Hemolyzed or degraded DNA samples may affect sequencing quality
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Insufficient sample volume may lead to test failure
- ●Contamination during sample collection or transport
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| Comparison | JAG2 Gene Craniofacial and neuro-developmental abnormalities, JAG2 related NGS Genetic Test |
Frequently Asked Questions
What is the JAG2 Gene NGS Genetic Test?
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What are craniofacial and neuro-developmental abnormalities?
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Is genetic counseling required before the JAG2 Gene test?
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