MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic Test
Short Name: MYO18B KFS4 NGS
Also known as: MYO18B Gene Sequencing, KFS4 Genetic Test, MYO18B-Related Disorder NGS Panel
MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism 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 Results 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 NGS genetic test is to identify pathogenic variants in the MYO18B gene that cause Klippel-Feil syndrome type 4. This test is indicated for individuals presenting with clinical features suggestive of KFS, such as cervical vertebral fusion, short neck, limited neck mobility, myopathy, and facial dysmorphism. Genetic confirmation is essential for accurate diagnosis, prognosis, genetic counseling, and recurrence risk assessment for family members. It also helps differentiate KFS4 from other types of KFS or related conditions with overlapping features.
- Test Code
- 5820
- CPT Code
- 81407
- ICD Code
- Q76.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results 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 before testing to discuss the implications and obtain informed consent. Please provide a detailed clinical history and family pedigree.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist using sterile technique. For FTA card, a few drops of blood will be placed on the card and allowed to dry.
Report Delivery
No specific aftercare is needed. The sample will be transported to the laboratory for analysis. Results will be shared via the chosen delivery method.
Timeline: Results 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 NGS genetic test is to identify pathogenic variants in the MYO18B gene that cause Klippel-Feil syndrome type 4. This test is indicated for individuals presenting with clinical features suggestive of KFS, such as cervical vertebral fusion, short neck, limited neck mobility, myopathy, and facial dysmorphism. Genetic confirmation is essential for accurate diagnosis, prognosis, genetic counseling, and recurrence risk assessment for family members. It also helps differentiate KFS4 from other types of KFS or related conditions with overlapping features.
How to Prepare
- Ensure the patient's identity is verified with a valid ID.
- For blood collection, use EDTA tube and mix gently.
- For FTA card, apply blood drops to the designated circles and air dry completely.
- Label the sample with patient name, date, and unique ID.
- Transport the sample at ambient temperature to the laboratory.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for MYO18B-related KFS is essential for accurate diagnosis and family counseling. NGS provides comprehensive analysis of the gene, aiding in management and recurrence risk assessment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing requisition form
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of MYO18B-related KFS4. Genetic counseling is recommended for the patient and family.
Likely pathogenic variant detected
Highly suggestive of disease; further family studies may be needed to confirm.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing or family segregation analysis may be required.
No pathogenic variants detected
Negative result; does not rule out KFS due to other genes or non-genetic causes.
Consult a clinical geneticist or your referring physician if you have symptoms suggestive of KFS, a family history of the condition, or if you are planning a family and have concerns about genetic risks. Also, consult if you have received a VUS result and need guidance.
Limitations
- ⚠This test detects single nucleotide variants and small indels in the MYO18B gene; large deletions/duplications may not be detected unless specifically requested.
- ⚠Variants in non-coding regions or regulatory elements may not be covered.
- ⚠Negative result does not exclude the possibility of mutations in other genes causing similar phenotype.
- ⚠Variant of uncertain significance (VUS) may require additional family studies.
Risks & Considerations
- ●No significant physical risks associated with blood draw; minimal bruising or discomfort may occur.
- ●Psychological impact of genetic results, including potential anxiety or distress.
- ●Possibility of incidental findings or variants of uncertain significance.
Interfering Factors
- ●Poor DNA quality or quantity from sample
- ●Contamination during sample collection
- ●Incomplete clinical information may affect interpretation
- ●Presence of large deletions/duplications not detected by standard NGS (unless CNV analysis included)
Compare With Similar Tests
| Test | MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic Test | Sanger Sequencing for MYO18B | Whole Exome Sequencing (WES) |
|---|---|---|---|
| Comparison | MYO18B Gene Klippel-Feil syndrome type 4, autosomal dominant, with myopathy and facial dysmorphism NGS Genetic Test |
Frequently Asked Questions
What is Klippel-Feil syndrome type 4?
How is MYO18B-related KFS diagnosed?
What is the cost of the MYO18B NGS genetic test at DNA Labs India?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
Will I receive raw data files?
Is genetic counseling included?
Can this test be done for children?
Is home sample collection available?
What does a negative result mean?
Is this test covered by insurance?
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