Cenani-Lenz Syndactyly Syndrome is a rare congenital disorder characterized by complete or partial fusion of fingers and toes. It is caused by mutations in the LRP4 gene, which disrupts normal limb development during embryonic growth. The MuSK and LRP4 Antibodies Panel is the most important test for assessing LRP4 protein function abnormalities that may lead to genetic confirmation.
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Cenani-Lenz Syndactyly Syndrome is caused by mutations in the LRP4 gene, which plays a critical role in limb development during embryonic growth. These genetic mutations disrupt the normal separation of fingers and toes, leading to complete or partial fusion called syndactyly. The LRP4 protein is essential for proper limb formation, and when its function is impaired by genetic changes, it results in the characteristic webbing or fusion of digits seen in this rare congenital disorder.
The MuSK and LRP4 Antibodies Panel is the most important blood test for Cenani-Lenz Syndactyly Syndrome because it detects antibodies against LRP4 protein, which is directly connected to the genetic cause of this condition. This panel helps identify abnormal LRP4 function that may be associated with the underlying genetic mutations. While genetic testing remains the gold standard for definitive diagnosis, the LRP4 antibody testing provides valuable information about protein function abnormalities and can guide healthcare providers toward comprehensive genetic evaluation when clinical presentation suggests this rare syndrome.
You should get tested if your child is born with webbed or fused fingers or toes, especially if multiple digits are affected on both hands and feet. Testing is also recommended if there is a family history of syndactyly or limb malformations, or if prenatal ultrasound reveals limb abnormalities. Early evaluation with blood work assessing LRP4 protein function can help guide genetic counseling and prepare for potential surgical interventions to separate fused digits and improve hand or foot function.
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What this means
Your anti-MuSK antibody test came back negative, meaning no antibodies against the MuSK protein were detected in your blood. This is the normal and healthy result. If you're experiencing muscle weakness symptoms, your doctor may consider testing for other types of Myasthenia Gravis antibodies or exploring alternative diagnoses.
Recommended actions
Discuss your muscle weakness symptoms with a neurologist for comprehensive evaluation
Consider testing for other MG-related antibodies like acetylcholine receptor antibodies
Keep a symptom diary tracking when weakness occurs and what makes it better or worse
Maintain good sleep habits and avoid overexertion while seeking diagnosis
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