GJA1 Gene Oculodentodigital dysplasia NGS Genetic Test
Short Name: GJA1 NGS Test
Also known as: ODDD Genetic Test, GJA1 Gene Sequencing, Connexin 43 Gene Test
GJA1 Gene Oculodentodigital dysplasia 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 from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Oculodentodigital dysplasia by identifying pathogenic mutations in the GJA1 gene. It is also used for carrier testing, prenatal diagnosis, and risk assessment in family members of affected individuals. Early molecular confirmation helps in proactive management of potential complications such as heart defects, vision problems, and dental anomalies.
- Test Code
- 5877
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a clinical history and genetic counseling session are recommended before the test.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Oculodentodigital dysplasia by identifying pathogenic mutations in the GJA1 gene. It is also used for carrier testing, prenatal diagnosis, and risk assessment in family members of affected individuals. Early molecular confirmation helps in proactive management of potential complications such as heart defects, vision problems, and dental anomalies.
How to Prepare
- Ensure the sample is collected in an EDTA tube for blood.
- If using FTA card, allow the blood spot to dry completely before sealing.
- Label the sample with patient ID and date of collection.
- Transport the sample to the lab at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of ODDD is crucial for managing multi-system involvement. NGS provides a comprehensive analysis of the GJA1 gene, enabling accurate diagnosis and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged transit time (>7 days)
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of ODDD. Genetic counseling recommended for family members.
Variant of uncertain significance (VUS)
Further testing or family segregation analysis may be needed to clarify significance.
No pathogenic variant detected
Does not rule out ODDD; other genetic causes may be considered.
Consult a clinical geneticist if you or your child have symptoms suggestive of ODDD, or if there is a family history of the condition. Early consultation can facilitate timely diagnosis and management.
Limitations
- ⚠This test detects mutations in the GJA1 gene only; other genes may be involved in similar phenotypes.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Not a substitute for clinical evaluation by a geneticist.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants in non-coding regions not covered by standard NGS
Compare With Similar Tests
| Test | GJA1 Gene Oculodentodigital dysplasia NGS Genetic Test | Whole Exome Sequencing (WES) | Sanger Sequencing |
|---|---|---|---|
| Comparison | GJA1 Gene Oculodentodigital dysplasia NGS Genetic Test |
Frequently Asked Questions
What is Oculodentodigital dysplasia?
How is ODDD diagnosed?
What is the cost of the GJA1 gene NGS test?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done for children?
Will I receive raw data files?
Is genetic counseling included?
What does a positive result mean?
Are there any risks associated with the test?
Can the test be done during pregnancy?
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₹20,000Reference 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.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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