CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type NGS Genetic DNA Test

Comprehensive Genetic Testing for Lethal Multiple Pterygium Syndrome

The CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for families affected by this severe congenital disorder. Utilizing cutting-edge Next-Generation Sequencing (NGS) technology, this test provides definitive answers about genetic mutations in the CHRNA1 gene that cause lethal multiple pterygium syndrome, enabling informed medical decisions and family planning.

What is Lethal Multiple Pterygium Syndrome?

Lethal multiple pterygium syndrome is an extremely rare and severe genetic disorder characterized by multiple joint contractures (arthrogryposis), webbing of the skin across joints (pterygia), and significant respiratory complications that typically prove fatal in utero or shortly after birth. The condition affects multiple body systems including skeletal, muscular, and respiratory systems, making early genetic detection crucial for affected families.

What This Test Measures and Detects

Our advanced NGS-based genetic test specifically targets and analyzes the CHRNA1 gene, which encodes the alpha-1 subunit of the nicotinic acetylcholine receptor. This comprehensive analysis detects:

• Point mutations and single nucleotide variants in the CHRNA1 gene
• Small insertions and deletions affecting gene function
• Pathogenic variants associated with lethal multiple pterygium syndrome
• Carrier status for autosomal recessive inheritance patterns
• Novel mutations that may not be documented in existing databases

Who Should Consider This Genetic Test

This specialized genetic test is recommended for individuals and families experiencing:

• Family history of lethal multiple pterygium syndrome or similar congenital disorders
• Previous pregnancies affected by fetal akinesia or arthrogryposis
• Couples planning pregnancy with known family history of CHRNA1 mutations
• Individuals with unexplained multiple joint contractures in family members
• Prenatal diagnosis when ultrasound reveals fetal abnormalities consistent with the syndrome
• Genetic counseling purposes for at-risk families

Clinical Symptoms and Indicators

Families should consider testing when multiple family members exhibit symptoms including:

• Multiple joint contractures present at birth
• Skin webbing across joints (elbows, knees, fingers)
• Facial abnormalities including cleft palate or micrognathia
• Respiratory distress in newborns
• Muscle weakness and decreased fetal movement
• Hydrops fetalis or other prenatal complications

Benefits of CHRNA1 Genetic Testing

Undergoing this comprehensive genetic analysis provides numerous advantages for families and healthcare providers:

• Definitive Diagnosis: Provides clear genetic confirmation of lethal multiple pterygium syndrome
• Family Planning: Enables informed reproductive decisions for at-risk couples
• Prenatal Screening: Allows for early detection during pregnancy through chorionic villus sampling or amniocentesis
• Genetic Counseling: Provides accurate risk assessment for future pregnancies
• Medical Management: Guides appropriate medical care and interventions
• Research Contribution: Helps advance understanding of rare genetic disorders

Understanding Your Test Results

Our comprehensive genetic counseling services help you interpret and understand your CHRNA1 test results:

Positive Result Interpretation

A positive result indicates the presence of pathogenic mutations in the CHRNA1 gene associated with lethal multiple pterygium syndrome. This confirmation enables:

• Accurate genetic counseling for family members
• Precise recurrence risk calculations for future pregnancies
• Consideration of prenatal testing options
• Connection with support groups and specialized medical care

Negative Result Interpretation

A negative result suggests that no pathogenic CHRNA1 mutations were detected, significantly reducing but not completely eliminating the risk of lethal multiple pterygium syndrome in offspring. Additional genetic testing may be recommended based on clinical presentation.

Variant of Uncertain Significance

Some genetic changes may be classified as variants of uncertain significance (VUS). In these cases, we provide ongoing monitoring and may recommend testing additional family members to help clarify the variant’s clinical significance.

Test Pricing and Availability

Test Details

• Turnaround Time: 3 to 4 Weeks
• Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
• Methodology: Next-Generation Sequencing (NGS) Technology
• Specialty: Dermatology, Genetics, Osteology, Immunology
• Pre-test Requirements: Clinical History and Genetic Counseling Session

Nationwide Testing Availability

We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures you receive comprehensive care regardless of your location.

Take Control of Your Genetic Health Today

Don’t let uncertainty about genetic risks affect your family’s future. Our CHRNA1 Gene Multiple Pterygium Syndrome Lethal Type NGS Genetic DNA Test provides the clarity and confidence you need for informed medical decisions. With our discounted price of $500 USD and comprehensive genetic counseling included, there’s never been a better time to take this important step toward understanding your genetic health.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to guide you through every step of the process and answer all your questions about this important genetic testing.