ZSWIM6 Gene Acromelic frontonasal dysostosis NGS Genetic Test
Short Name: ZSWIM6 AFND NGS Test
Also known as: Acromelic frontonasal dysostosis, AFND, ZSWIM6-related disorder
ZSWIM6 Gene Acromelic frontonasal dysostosis 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
To confirm the diagnosis of Acromelic frontonasal dysostosis by identifying mutations in the ZSWIM6 gene, aiding in clinical management, genetic counseling, and family risk assessment.
- Test Code
- 5639
- 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
Obtain detailed clinical history and conduct a genetic counseling session to draw a pedigree chart of affected family members.
Method: Blood draw or saliva collection
Laboratory Analysis
Collect a blood sample via venipuncture or a saliva sample using a provided kit, following standard aseptic techniques.
Report Delivery
Label the sample correctly and transport it to the laboratory under ambient room temperature conditions for processing.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To confirm the diagnosis of Acromelic frontonasal dysostosis by identifying mutations in the ZSWIM6 gene, aiding in clinical management, genetic counseling, and family risk assessment.
How to Prepare
- Use EDTA tubes for blood samples or FTA cards for one-drop blood collection
- Ensure sample is not hemolyzed or contaminated
- Follow instructions for saliva collection if applicable
- Maintain sample at room temperature during transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for ZSWIM6 mutations is vital for diagnosing AFND, enabling timely intervention and family planning counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed samples
- Incorrectly labeled or unlabeled samples
- Samples stored improperly beyond stability limits
Understanding Your Results
Positive (Pathogenic Variant Detected)
Confirms diagnosis of Acromelic frontonasal dysostosis. Genetic counseling recommended for management and family planning.
Negative (No Pathogenic Variant Detected)
No mutations in ZSWIM6 gene identified. Clinical correlation needed; consider other genetic tests if symptoms persist.
Variant of Uncertain Significance (VUS)
Genetic variant detected but clinical significance unknown. Follow-up testing and family studies may be required.
Consult a genetic specialist or pediatrician if symptoms of AFND are present, such as facial abnormalities or limb defects, or if there is a family history of the disorder.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or duplications
- ⚠Results require correlation with clinical findings and genetic counseling
- ⚠Limited to analysis of the ZSWIM6 gene; other genetic causes of similar symptoms may not be identified
- ⚠Turnaround time may vary based on laboratory workload
Risks & Considerations
- ●Minimal physical risk from blood draw, such as bruising or infection
- ●Psychological impact of test results, including anxiety or distress
- ●Potential for incidental findings unrelated to AFND
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Previous blood transfusions affecting DNA analysis
- ●Technical errors in sequencing or data processing
Frequently Asked Questions
What is Acromelic frontonasal dysostosis (AFND)?
What does the ZSWIM6 Gene NGS Genetic Test involve?
Who should consider this test?
What is the cost of the test?
How long does it take to get results?
Is home sample collection available?
What are the symptoms of AFND?
How accurate is the NGS Genetic Test?
Is the test covered by insurance?
What should I do before the test?
Can the test detect all mutations in the ZSWIM6 gene?
How do I interpret the results?
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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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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