MSX1 Gene Witkop syndrome NGS Genetic Test
Short Name: MSX1 NGS Test
Also known as: Witkop Syndrome Genetic Test, MSX1 Gene Mutation Analysis, Tooth and Nail Syndrome NGS Test
MSX1 Gene Witkop syndrome 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 is received at the laboratory.. 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 or rule out a diagnosis of Witkop syndrome by detecting mutations in the MSX1 gene. It helps in establishing a definitive diagnosis, guiding clinical management, assessing recurrence risk in families, and enabling informed reproductive decisions.
- Test Code
- 5989
- 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
- Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately.
Timeline: Reports are typically delivered within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or rule out a diagnosis of Witkop syndrome by detecting mutations in the MSX1 gene. It helps in establishing a definitive diagnosis, guiding clinical management, assessing recurrence risk in families, and enabling informed reproductive decisions.
How to Prepare
- For blood sample: Use EDTA tube, mix gently to prevent clotting.
- For FTA card: Apply one drop of blood onto the designated circle, allow to air dry.
- Label the sample with patient name, date, and unique ID.
- Transport at ambient temperature (15-30°C) within 24 hours.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Witkop syndrome is a rare autosomal dominant disorder. Genetic confirmation via MSX1 gene sequencing is essential for accurate diagnosis, family counseling, and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrectly labeled sample
- Sample received after prolonged storage without proper temperature
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
Diagnosis of Witkop syndrome is confirmed. Genetic counseling is recommended for family members.
Action: Discuss management and reproductive options with a geneticist.
Likely pathogenic variant detected
High likelihood of disease; further family studies may be needed.
Action: Confirm with additional testing if necessary.
Variant of uncertain significance (VUS)
Cannot determine if the variant is disease-causing.
Action: Additional testing of family members may help clarify.
No pathogenic variant detected
No evidence of MSX1-related Witkop syndrome.
Action: Consider other genetic causes or clinical evaluation.
If you or your child have symptoms such as missing teeth, abnormal nails, or a family history of Witkop syndrome, consult a clinical geneticist or pediatrician for evaluation and genetic testing.
Limitations
- ⚠This test detects mutations only in the MSX1 gene; 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 require further family studies.
- ⚠Test does not assess non-genetic causes of dental/nail abnormalities.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS) requiring further testing
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Recent blood transfusion (may affect DNA extraction)
- ●Maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | MSX1 Gene Witkop syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted MSX1 Sanger Sequencing | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | MSX1 Gene Witkop syndrome NGS Genetic Test |
Frequently Asked Questions
What is Witkop syndrome?
How is Witkop syndrome diagnosed?
What is the cost of the MSX1 gene test in India?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done during pregnancy?
What does a negative result mean?
What is a variant of uncertain significance (VUS)?
Is genetic counseling included in the test?
Can this test be done for children?
Is home sample collection available?
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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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