ORC1 Gene Meier-Gorlin Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Primordial Dwarfism
The ORC1 Gene Meier-Gorlin Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Meier-Gorlin Syndrome Type 1, a rare autosomal recessive disorder characterized by primordial dwarfism. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive evaluation of the ORC1 gene, which plays a critical role in DNA replication initiation and cellular growth regulation.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the ORC1 (Origin Recognition Complex Subunit 1) gene, which encodes a crucial component of the origin recognition complex responsible for initiating DNA replication during cell division. The test detects:
- Pathogenic variants and mutations in the ORC1 gene
- Single nucleotide polymorphisms (SNPs) affecting gene function
- Insertions, deletions, and frameshift mutations
- Copy number variations impacting gene dosage
- Splice site mutations affecting protein production
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following clinical features:
- Severe growth retardation with proportionate short stature
- Microcephaly (abnormally small head circumference)
- Distinctive facial features including micrognathia and prominent ears
- Skeletal abnormalities such as patellar hypoplasia or absence
- Unexplained developmental delays in infancy and childhood
- Family history of primordial dwarfism or Meier-Gorlin Syndrome
- Couples with previous affected children planning future pregnancies
Significant Benefits of Genetic Testing
Undergoing the ORC1 Gene Meier-Gorlin Syndrome Type 1 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Meier-Gorlin Syndrome Type 1 with high precision
- Personalized Management: Enables tailored medical care and monitoring strategies
- Family Planning Guidance: Provides crucial information for reproductive decision-making
- Early Intervention: Facilitates timely implementation of supportive therapies
- Genetic Counseling: Supports informed discussions about inheritance patterns
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and presented in a comprehensive report:
- Positive Result: Indicates the presence of pathogenic mutations in the ORC1 gene, confirming Meier-Gorlin Syndrome Type 1 diagnosis
- Negative Result: Suggests no detectable mutations in the ORC1 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene without showing symptoms
All results include detailed explanations and recommendations for follow-up care, with genetic counseling sessions available to discuss implications and next steps.
Test Pricing and Sample Requirements
| Test Feature | Details |
|---|---|
| Test Name | ORC1 Gene Meier-Gorlin Syndrome Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Types | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Preparation Requirements
To ensure optimal testing conditions and accurate results, please provide:
- Complete clinical history of the patient undergoing testing
- Participation in a genetic counseling session prior to testing
- Detailed pedigree chart documenting family members affected by ORC1-related conditions
- Relevant medical records and previous test results
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent quality and reliability regardless of testing location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your health decisions. Our expert team of genetic counselors and medical professionals is ready to guide you through the testing process and provide the answers you need for informed healthcare choices.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your ORC1 Gene Meier-Gorlin Syndrome Type 1 NGS Genetic DNA Test. Take control of your genetic health with confidence and precision.
