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LFNG Gene Spondylocostal Dysostosis Autosomal Recessive Type 3 NGS Genetic DNA Test

Original price was: $700.Current price is: $500.

-29%

The LFNG Gene Spondylocostal Dysostosis Autosomal Recessive Type 3 NGS Genetic DNA Test is a cutting-edge diagnostic tool that identifies mutations in the LFNG gene responsible for severe spinal and rib abnormalities. This comprehensive next-generation sequencing test provides definitive diagnosis for individuals with congenital vertebral malformations, helping families understand the genetic basis of their condition. The test costs $500 USD and offers crucial information for medical management, surgical planning, and genetic counseling. Results are typically available within 3-4 weeks from sample collection, providing families with timely answers about this rare skeletal disorder.

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  • ISO-Accredited Laboratory, Ensuring Highest Standards
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LFNG Gene Spondylocostal Dysostosis Autosomal Recessive Type 3 NGS Genetic DNA Test

Understanding Spondylocostal Dysostosis Type 3

Spondylocostal dysostosis type 3 is a rare genetic disorder characterized by severe malformations of the spine and ribs, resulting from mutations in the LFNG (Lunatic Fringe) gene. This condition falls under the broader category of skeletal dysplasias and represents a significant challenge in pediatric orthopedics and genetics. The LFNG gene plays a crucial role in the Notch signaling pathway, which is essential for proper segmentation and patterning of the vertebral column during embryonic development.

What This Advanced Genetic Test Detects

Our comprehensive NGS (Next-Generation Sequencing) genetic test specifically targets the LFNG gene to identify pathogenic variants responsible for spondylocostal dysostosis type 3. The test examines:

  • Complete coding regions of the LFNG gene
  • Exon-intron boundaries for splice site mutations
  • Known pathogenic variants associated with spinal malformations
  • Novel mutations that may impact protein function
  • Autosomal recessive inheritance patterns

Clinical Indications and Who Should Consider Testing

This genetic test is recommended for individuals presenting with:

  • Congenital vertebral segmentation defects
  • Multiple rib abnormalities and fusion
  • Short trunk dwarfism with normal limb length
  • Restrictive lung disease due to thoracic insufficiency
  • Family history of spinal malformations
  • Unexplained neonatal respiratory distress
  • Planned pregnancy with family history of skeletal disorders

Key Benefits of LFNG Genetic Testing

Undergoing this specialized genetic analysis provides numerous advantages:

  • Accurate Diagnosis: Confirms the specific genetic cause of spinal abnormalities
  • Family Planning: Enables informed reproductive decisions for at-risk couples
  • Medical Management: Guides appropriate surgical and therapeutic interventions
  • Prognostic Information: Helps predict disease progression and potential complications
  • Genetic Counseling: Provides basis for comprehensive family genetic assessment
  • Research Contribution: Advances understanding of rare skeletal disorders

Understanding Your Test Results

Our genetic specialists provide detailed interpretation of your results:

  • Positive Result: Identifies pathogenic LFNG mutations confirming diagnosis
  • Negative Result: No mutations detected, though other genetic causes may exist
  • Variant of Uncertain Significance: Requires additional family studies for clarification
  • Carrier Status: Identifies individuals with one mutated copy of the gene

All results include comprehensive genetic counseling to ensure proper understanding and next steps.

Test Pricing and Details

Test Feature Details
Test Name LFNG Gene Spondylocostal Dysostosis Autosomal Recessive Type 3 NGS Genetic DNA Test
Discount Price $500 USD
Regular Price $700 USD
Turnaround Time 3 to 4 Weeks
Sample Type Blood, Extracted DNA, or One Drop Blood on FTA Card

Nationwide Testing Availability

We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.

Pre-Test Requirements

Before undergoing testing, we recommend:

  • Complete clinical history documentation
  • Genetic counseling session with our specialists
  • Development of detailed family pedigree chart
  • Discussion of testing implications and potential outcomes
  • Informed consent process

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about spinal abnormalities and skeletal disorders affect your family’s future. Our LFNG genetic testing provides the answers you need for proper diagnosis and management. With our discounted price of $500 and comprehensive genetic counseling support, you can make informed decisions about your health and family planning.

Call us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counselors. Take control of your genetic health with confidence and clarity.

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