• What does a positive result in this test mean?

It indicates a genetic mutation associated with Klippel-Feil syndrome, helping your doctor evaluate the condition and provide genetic counseling.

• Should other family members be tested?

Depending on the results and the mutation found, a genetic counselor may recommend testing family members to assess inheritance risks.

Book Klippel-Feil Genetic Panel | Lahalak Medical Platform

Lahalak Medical PlatformDifferentiate Care

Medical notice: this information is for education and service understanding. It is not a diagnosis or a recommendation for an unnecessary procedure.

About this service

Advanced NGS genetic test analyzing GDF3, GDF6, MEOX1, and MYO18B genes to detect mutations causing cervical vertebral fusion, supporting precise clinical diagnosis and family genetic risk assessment.

What is Klippel-Feil Syndrome?

A rare skeletal disorder characterized by the abnormal fusion of two or more spinal bones in the neck.
Common signs include a short neck, low hairline at the back of the head, and restricted neck motion.
Genetic testing helps identify the specific inheritance pattern of the syndrome.

Genes Included in the Panel

GDF3 and GDF6: Often associated with autosomal dominant inheritance.
MEOX1 and MYO18B: Typically associated with autosomal recessive inheritance.
Comprehensive coverage of the most common pathogenic variants.

Benefits of Genetic Testing

Confirms clinical diagnosis in suspected cases.
Identifies the risk of passing the condition to future generations.
Assists in early monitoring for associated spinal complications.

What is included?

✓Venous blood sample collection
✓Next-Generation Sequencing (NGS) analysis
✓Detailed genetic report for targeted genes

Conditions and notices

Fasting is not required
Previous medical reports are preferred if available
No special dietary preparations are required

Frequently Asked Questions

Short answers to the FAQs published with this service.

• What is the purpose of the Klippel-Feil Syndrome gene panel?

The test aims to identify genetic mutations in specific genes that cause cervical vertebral fusion, confirming the clinical diagnosis.

• Does this genetic test require fasting?

No, fasting is not required for the Klippel-Feil Syndrome NGS panel; the sample can be collected at any time.

• How long does it take to get the NGS genetic results?

Due to the complexity of Next-Generation Sequencing, results typically take 3 to 4 weeks for a detailed and accurate report.

• Can I perform this test through home service?

Service resources and references

References and additional resources

Reference material and files associated with this service when available.

Scientific references

Saudi Society of Medical Genetics
National Center for Biotechnology Information (NCBI)
Genetic Testing Registry (GTR)

Klippel-Feil Syndrome Genetic Panel

About this service

What is Klippel-Feil Syndrome?

Genes Included in the Panel

Benefits of Genetic Testing

What is included?

Conditions and notices

Frequently Asked Questions

References and additional resources

Scientific references

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