MEOX1 Gene Klippel-Feil syndrome type 2, autosomal dominant NGS Genetic Test
Short Name: MEOX1 KFS2 NGS
Also known as: Klippel-Feil Syndrome Type 2 Genetic Test, MEOX1 Gene Sequencing
MEOX1 Gene Klippel-Feil syndrome type 2, autosomal dominant 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 available 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 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the MEOX1 gene that cause Klippel-Feil Syndrome Type 2. It is indicated for individuals with clinical features suggestive of KFS2, for confirmation of diagnosis, for carrier testing in at-risk family members, and for prenatal diagnosis in families with a known MEOX1 mutation. The test also aids in genetic counseling and management planning.
- Test Code
- 5815
- CPT Code
- 81408
- ICD Code
- Q76.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended to discuss the test and its implications.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by venipuncture or fingerstick onto FTA card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for analysis.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the MEOX1 gene that cause Klippel-Feil Syndrome Type 2. It is indicated for individuals with clinical features suggestive of KFS2, for confirmation of diagnosis, for carrier testing in at-risk family members, and for prenatal diagnosis in families with a known MEOX1 mutation. The test also aids in genetic counseling and management planning.
How to Prepare
- Ensure patient identity is verified.
- Use EDTA vacutainer for blood collection or FTA card for dried blood spot.
- Label the sample with patient name and date of birth.
- Transport the sample at ambient temperature to the laboratory.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Klippel-Feil Syndrome Type 2 is a rare congenital disorder. Genetic confirmation via NGS is essential for accurate diagnosis and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged delay without proper storage
Understanding Your Results
Positive (Pathogenic variant)
Confirms diagnosis of KFS2. Genetic counseling is recommended for family members.
Action: Discuss management and surveillance with a specialist.
Negative (No pathogenic variant)
No mutation detected in MEOX1. Consider other genetic causes or clinical re-evaluation.
Action: Further testing may be considered based on clinical findings.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown.
Action: Additional testing or family studies may be needed to clarify.
Consult a geneticist or pediatrician if you or your child have symptoms suggestive of Klippel-Feil Syndrome Type 2, such as short neck, limited neck movement, or scoliosis. Also, if there is a family history of the condition, genetic counseling is advised.
Limitations
- ⚠This test only analyzes the MEOX1 gene; mutations in other genes may cause similar phenotypes.
- ⚠Variant of uncertain significance (VUS) may be reported; further testing may be required.
- ⚠The test does not detect large deletions/duplications or deep intronic variants.
- ⚠Genetic counseling is recommended for interpretation of results.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of other genetic variants that may complicate interpretation
Compare With Similar Tests
| Test | MEOX1 Gene Klippel-Feil syndrome type 2, autosomal dominant NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) |
|---|---|---|---|
| Comparison | MEOX1 Gene Klippel-Feil syndrome type 2, autosomal dominant NGS Genetic Test |
Frequently Asked Questions
What is Klippel-Feil Syndrome Type 2?
How is Klippel-Feil Syndrome Type 2 inherited?
What is the cost of the MEOX1 gene NGS test?
What sample is required for the 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 positive result mean?
What if the result is negative?
Is genetic counseling included?
In which cities is home sample collection available?
How do I book this test?
Related Tests
ACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test
₹20,000SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic Test
₹20,000Comprehensive Ear Nose Throat Panel NGS Genetic Test
₹20,000ATAC Sequencing
₹48,000PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test
₹20,000IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
₹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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.