CCBE1 Gene Hennekam lymphangiectasia-lymphedema syndrome type 1 NGS Genetic Test
Short Name: CCBE1 Hennekam Syndrome NGS Test
CCBE1 Gene Hennekam lymphangiectasia-lymphedema syndrome type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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
To diagnose Hennekam lymphangiectasia-lymphedema syndrome type 1 by detecting mutations in the CCBE1 gene using Next-Generation Sequencing (NGS) technology, enabling accurate clinical management and genetic counseling.
- Test Code
- 4962
- 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
- NGS Technology
Sample Collection
Genetic counseling session recommended to discuss test implications and family history.
Method: Venipuncture or FTA card
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card.
Report Delivery
Sample sent to laboratory for NGS analysis; results available in 3-4 weeks.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Hennekam lymphangiectasia-lymphedema syndrome type 1 by detecting mutations in the CCBE1 gene using Next-Generation Sequencing (NGS) technology, enabling accurate clinical management and genetic counseling.
How to Prepare
- Ensure proper identification and labeling of the sample.
- For blood collection, use standard venipuncture techniques.
- For FTA card, apply one drop of blood and allow to dry.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for CCBE1 mutations is essential for accurate diagnosis, symptom management, and informed family planning in Hennekam syndrome."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Hennekam syndrome type 1; genetic counseling and management recommended.
No pathogenic variant detected
Reduces likelihood of CCBE1-related Hennekam syndrome; consider other genetic or clinical causes.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a genetic specialist or dermatologist if symptoms such as lymphedema, lymphangiectasia, or developmental delays are present, or if there is a family history of the disorder.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications.
- ⚠Results require interpretation by a genetic counselor or specialist.
- ⚠Does not rule out other genetic or non-genetic causes of lymphatic disorders.
Risks & Considerations
- ●Minimal risks associated with blood draw, such as bruising or infection.
- ●Psychological impact of genetic results; counseling available.
Frequently Asked Questions
What is Hennekam lymphangiectasia-lymphedema syndrome type 1?
What are the common symptoms of this syndrome?
How is Hennekam syndrome diagnosed?
What does the NGS Genetic Test for CCBE1 involve?
What is the cost of the CCBE1 NGS Genetic Test at DNA Labs India?
Is home sample collection available for this test?
How long does it take to get the test results?
What sample types are accepted for the test?
Is fasting required before the test?
Who should consider getting this genetic test?
What are the implications of a positive test result?
Is genetic counseling provided with the test?
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