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FGFR1 Gene Craniosynostosis NGS Genetic DNA Test

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

-29%

The FGFR1 Gene Craniosynostosis NGS Genetic DNA Test is a comprehensive diagnostic tool that identifies mutations in the FGFR1 gene responsible for craniosynostosis disorders. Using advanced Next-Generation Sequencing technology, this test provides precise detection of genetic variants that cause premature fusion of skull sutures in infants and children. The test is essential for families with a history of craniosynostosis, individuals presenting with abnormal head shape, or those planning pregnancy with known genetic risk factors. Results are delivered within 3-4 weeks and include detailed genetic counseling to help families understand their diagnosis and make informed healthcare decisions. The test costs $500 USD and requires a simple blood sample or extracted DNA. Early genetic identification enables proactive medical management and surgical planning when necessary.

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  • ISO-Accredited Laboratory, Ensuring Highest Standards
  • Trusted by Hospitals & Patients —Accredited Testing with Results
  • Direct Healthcare Provider Support + Comprehensive Reporting
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FGFR1 Gene Craniosynostosis NGS Genetic DNA Test

Comprehensive Genetic Testing for Craniosynostosis Disorders

The FGFR1 Gene Craniosynostosis NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, offering families and healthcare providers precise identification of genetic mutations responsible for craniosynostosis conditions. Craniosynostosis involves the premature fusion of one or more cranial sutures in infants, leading to abnormal skull development and potential neurological complications if left untreated.

What This Advanced Genetic Test Detects

Our comprehensive NGS-based test specifically targets the FGFR1 (Fibroblast Growth Factor Receptor 1) gene, which plays a critical role in bone development and cranial suture formation. The test identifies:

  • Pathogenic variants in the FGFR1 gene associated with craniosynostosis syndromes
  • Both inherited and de novo mutations affecting cranial development
  • Specific genetic markers linked to Pfeiffer syndrome and related conditions
  • Variants that impact skull growth and brain development in infants

Who Should Consider FGFR1 Genetic Testing?

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

  • Infants with abnormal head shape or premature suture closure
  • Family history of craniosynostosis or related genetic disorders
  • Children presenting with midface hypoplasia or syndactyly
  • Parents planning pregnancy with known FGFR1 gene mutations in family history
  • Individuals with suspected Pfeiffer syndrome or related craniofacial conditions
  • Unexplained developmental delays with cranial abnormalities

Significant Benefits of Early Genetic Identification

Undergoing FGFR1 genetic testing provides numerous advantages for patients and families:

  • Accurate Diagnosis: Precise identification of the underlying genetic cause enables targeted treatment planning
  • Family Planning Guidance: Genetic counseling helps families understand inheritance patterns and recurrence risks
  • Early Intervention: Timely diagnosis allows for appropriate surgical planning and medical management
  • Comprehensive Care: Results guide multidisciplinary treatment involving neurosurgeons, craniofacial specialists, and geneticists
  • Peace of Mind: Clear genetic answers reduce uncertainty and support informed healthcare decisions

Understanding Your Test Results

Our comprehensive genetic report provides clear, actionable information:

  • Positive Result: Indicates the presence of a pathogenic FGFR1 mutation. Our genetic counselors will explain the specific variant, inheritance pattern, and recommended next steps for medical management.
  • Negative Result: No disease-causing FGFR1 mutations were detected. However, other genetic or environmental factors may still contribute to craniosynostosis.
  • Variant of Uncertain Significance: Some genetic changes require additional research. Our team provides ongoing support and monitoring as scientific understanding evolves.

Test Pricing and Availability

Test Feature Details
Test Name FGFR1 Gene Craniosynostosis 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 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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified genetic counselors and collection facilities ensures accessible testing nationwide.

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about craniosynostosis genetics impact your family’s health decisions. Our expert team of genetic specialists is ready to guide you through the testing process with compassion and clinical excellence. Schedule your FGFR1 genetic test today to gain the genetic insights needed for optimal medical care and family planning.

Call or WhatsApp us now at +1(267) 388-9828 to book your FGFR1 Gene Craniosynostosis NGS Genetic DNA Test and take control of your genetic health journey.

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