SALL4 Gene Duane Retraction Syndrome NGS Genetic DNA Test

Comprehensive Genetic Testing for Eye Movement Disorders

The SALL4 Gene Duane Retraction Syndrome NGS Genetic DNA Test represents a cutting-edge approach to diagnosing congenital eye movement disorders. This specialized genetic test focuses on identifying mutations in the SALL4 gene, which plays a crucial role in embryonic development and has been directly linked to Duane Retraction Syndrome (DRS). As a rare congenital disorder affecting eye movement coordination, DRS requires precise genetic diagnosis for optimal management and treatment planning.

What Does the Test Measure and Detect?

This advanced genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the SALL4 gene for:

• Point mutations and single nucleotide variations
• Small insertions and deletions (indels)
• Copy number variations affecting the SALL4 gene
• Structural variants that may disrupt normal gene function
• Pathogenic variants associated with Duane Retraction Syndrome

The SALL4 gene encodes a transcription factor essential for normal embryonic development, particularly in the formation of cranial nerves that control eye movement. Mutations in this gene can lead to abnormal development of the sixth cranial nerve (abducens nerve), resulting in the characteristic features of Duane Retraction Syndrome.

Who Should Consider This Test?

This genetic test is recommended for individuals presenting with:

• Limited horizontal eye movement, particularly outward movement
• Retraction of the eyeball into the socket when attempting to look inward
• Narrowing of the eye opening (palpebral fissure) during certain eye movements
• Abnormal head positioning to compensate for limited eye movement
• Strabismus or misalignment of the eyes
• Family history of Duane Retraction Syndrome or related eye movement disorders
• Congenital eye movement abnormalities diagnosed in infancy or childhood

Clinical Benefits of Genetic Testing

Undergoing the SALL4 Gene Duane Retraction Syndrome NGS Genetic DNA Test provides numerous clinical advantages:

• Accurate Diagnosis: Confirms the genetic basis of eye movement abnormalities
• Personalized Treatment Planning: Enables targeted interventions based on genetic findings
• Genetic Counseling: Provides essential information for family planning decisions
• Prognostic Insights: Helps predict disease progression and potential complications
• Differential Diagnosis: Distinguishes between different types of congenital strabismus
• Research Contribution: Advances understanding of genetic eye movement disorders

Understanding Your Test Results

Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists:

• Positive Result: Indicates the presence of a pathogenic mutation in the SALL4 gene, confirming the genetic diagnosis of Duane Retraction Syndrome
• Negative Result: Suggests that no disease-causing mutations were detected in the SALL4 gene, though other genetic or non-genetic causes should be considered
• Variant of Uncertain Significance: May identify genetic changes whose clinical significance is currently unknown, requiring further evaluation
• Carrier Status: In some cases, may identify individuals who carry the mutation but may not show symptoms

All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.

Test Pricing and Details

Pre-Test Requirements

Before undergoing testing, patients should provide:

• Complete clinical history relevant to eye movement disorders
• Participation in a genetic counseling session
• Development of a pedigree chart documenting family members affected by similar conditions
• Detailed ophthalmological examination findings

Nationwide Accessibility

We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures easy access to this specialized genetic testing service.

Take the Next Step Toward Genetic Clarity

If you or your child are experiencing symptoms of Duane Retraction Syndrome or have a family history of congenital eye movement disorders, the SALL4 Gene NGS Genetic DNA Test can provide the answers you need. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health with comprehensive, accurate testing from America’s leading genetics laboratory.