RHBDF2 Gene Tylosis with esophageal cancer NGS Genetic Test
Short Name: RHBDF2 NGS Test
Also known as: Tylosis Genetic Test, RHBDF2 Gene Sequencing, Esophageal Cancer Risk Genetic Test
RHBDF2 Gene Tylosis with esophageal cancer 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 Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The primary purpose of this NGS genetic test is to identify mutations in the RHBDF2 gene that cause tylosis and predispose individuals to esophageal cancer. It is used to confirm a clinical diagnosis of tylosis, assess cancer risk in affected individuals, and enable predictive testing for asymptomatic family members. The test also aids in genetic counseling and reproductive planning.
- Test Code
- 6027
- CPT Code
- 81479
- ICD Code
- Q82.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. Fasting is not necessary. Please carry any previous medical records or genetic test reports if available.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific precautions. You can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to identify mutations in the RHBDF2 gene that cause tylosis and predispose individuals to esophageal cancer. It is used to confirm a clinical diagnosis of tylosis, assess cancer risk in affected individuals, and enable predictive testing for asymptomatic family members. The test also aids in genetic counseling and reproductive planning.
How to Prepare
- For blood sample: Use EDTA tube, fill to the indicated mark, mix gently.
- For FTA card: Apply one drop of blood onto the designated circle, allow to air dry.
- Label the sample with patient name, date, and time of collection.
- Transport at ambient temperature (15-25°C) within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early identification of RHBDF2 mutations is critical for surveillance and prevention of esophageal cancer in at-risk individuals."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Sample received after prolonged transit (>72 hours) without proper storage
- Unlabeled or mislabeled sample
- Sample from patient who received allogeneic bone marrow transplant
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of tylosis and indicates increased risk of esophageal cancer. Recommend regular endoscopic surveillance and genetic counseling for family members.
Negative (No pathogenic variant detected)
No mutation found in RHBDF2 gene. If clinical suspicion remains high, consider other genetic causes or alternative testing.
Variant of Uncertain Significance (VUS)
A variant was found but its impact is unknown. Further family segregation analysis or functional studies may be needed.
Consult your doctor if you have symptoms of tylosis (thickened palms/soles), a family history of tylosis or esophageal cancer, or if you have been advised genetic testing by a specialist. Early consultation can lead to timely surveillance and prevention.
Limitations
- ⚠This test detects mutations in the RHBDF2 gene only; other genes associated with tylosis or esophageal cancer are not analyzed.
- ⚠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.
- ⚠Test does not predict the exact age of onset or severity of esophageal cancer.
- ⚠Regulatory variants in non-coding regions may not be covered.
Risks & Considerations
- ●No significant physical risks associated with blood draw
- ●Psychological impact of genetic test results
- ●Potential for incidental findings (unrelated to tylosis)
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of hematologic malignancies causing clonal hematopoiesis
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
Compare With Similar Tests
| Test | RHBDF2 Gene Tylosis with esophageal cancer NGS Genetic Test | Single Gene Sequencing (Sanger) | Whole Exome Sequencing (WES) | Multi-Gene Cancer Panel |
|---|---|---|---|---|
| Comparison | RHBDF2 Gene Tylosis with esophageal cancer NGS Genetic Test |
Frequently Asked Questions
What is the cost of the RHBDF2 gene NGS genetic test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
What does a positive result mean?
Can this test be done for children?
Is home sample collection available?
Will I receive raw data files?
What is the role of genetic counseling?
Are there any other genes tested?
What is the CPT code for this test?
Can this test predict esophageal cancer development?
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