GATA3 Gene Hypoparathyroidism, sensorineural deafness, and renal dysplasia NGS Genetic Test
Short Name: GATA3 Gene NGS Genetic Test
Also known as: HDR Syndrome, Barakat Syndrome
GATA3 Gene Hypoparathyroidism, sensorineural deafness, and renal 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. 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 GATA3 Gene NGS Genetic Test is to diagnose mutations in the GATA3 gene that cause HDR syndrome, enabling accurate identification of the disorder for appropriate medical management, genetic counseling, and family planning.
- Test Code
- 5446
- 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
Provide detailed clinical history and undergo a genetic counseling session to draw a pedigree chart of affected family members. Ensure proper documentation of symptoms and family history.
Method: Venipuncture or FTA card collection
Laboratory Analysis
A blood sample will be collected via venipuncture or a drop of blood on an FTA card. The process is quick and minimally invasive, performed by trained phlebotomists.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store the sample as instructed and transport it to the lab promptly. Follow any additional instructions from the healthcare provider.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GATA3 Gene NGS Genetic Test is to diagnose mutations in the GATA3 gene that cause HDR syndrome, enabling accurate identification of the disorder for appropriate medical management, genetic counseling, and family planning.
How to Prepare
- Provide accurate clinical history of the patient
- Complete a genetic counseling session for pedigree analysis
- Use sterile equipment for sample collection
- Label samples correctly with patient details
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for GATA3 mutations can help in timely management of associated conditions like hypoparathyroidism and renal issues, especially in families with a history of HDR syndrome."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated or degraded DNA
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of HDR syndrome; recommend genetic counseling and management of symptoms
Negative for pathogenic variant
No GATA3 mutations detected; consider other genetic or non-genetic causes
Variant of uncertain significance (VUS)
Further testing and family studies may be needed; clinical correlation is essential
Consult a doctor if you experience symptoms such as chronic low calcium levels, unexplained hearing loss, or kidney problems, especially with a family history of HDR syndrome. After testing, consult a geneticist or specialist for result interpretation and management.
Limitations
- ⚠May not detect all types of GATA3 gene mutations
- ⚠Variants of uncertain significance (VUS) may be identified
- ⚠Does not rule out other genetic disorders with similar symptoms
- ⚠Results require interpretation by a qualified geneticist
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising
- ●No significant risks associated with the genetic test itself
Interfering Factors
- ●Improper sample collection or handling
- ●Contamination of DNA sample
- ●Degraded DNA due to storage issues
- ●Use of anticoagulants that may affect DNA quality
Frequently Asked Questions
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Reference 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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