ORC4 Gene Meier-Gorlin Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Primordial Dwarfism
The ORC4 Gene Meier-Gorlin Syndrome Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Meier-Gorlin Syndrome Type 2, a rare autosomal recessive disorder characterized by primordial dwarfism. This sophisticated genetic analysis utilizes Next-Generation Sequencing technology to provide unparalleled accuracy in detecting pathogenic variants within the ORC4 gene, which plays a crucial role in DNA replication initiation and cellular growth regulation.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets the ORC4 (Origin Recognition Complex Subunit 4) gene, which encodes a vital component of the origin recognition complex responsible for initiating DNA replication during cell division. The test detects:
- Pathogenic mutations in the ORC4 gene coding regions
- Single nucleotide variants (SNVs) affecting protein function
- Small insertions and deletions (indels) disrupting gene expression
- Copy number variations impacting gene dosage
- Compound heterozygous mutations in autosomal recessive inheritance patterns
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with clinical features suggestive of Meier-Gorlin Syndrome Type 2, including:
- Severe prenatal and postnatal growth retardation (primordial dwarfism)
- Microcephaly with disproportionately small head circumference
- Characteristic facial features including small ears (microtia) or absent ears
- Skeletal abnormalities such as patellar hypoplasia or aplasia
- Developmental delays and intellectual disability in some cases
- Family history of similar symptoms or consanguineous parentage
- Unexplained short stature with normal growth hormone levels
Significant Benefits of ORC4 Genetic Testing
Undergoing the ORC4 Gene Meier-Gorlin Syndrome Type 2 NGS Genetic DNA Test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Meier-Gorlin Syndrome Type 2 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: Offers comprehensive understanding of inheritance patterns
- Research Contribution: Advances scientific knowledge of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into three categories:
- Positive Result: Identifies pathogenic mutations in the ORC4 gene, confirming Meier-Gorlin Syndrome Type 2 diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact requiring further evaluation
Our genetic counseling team will provide detailed explanations of your results, discuss implications for family members, and outline appropriate next steps for medical management.
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| ORC4 Gene Meier-Gorlin Syndrome Type 2 NGS Genetic DNA Test – Discount Price | $500 |
| ORC4 Gene Meier-Gorlin Syndrome Type 2 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer the ORC4 Gene Meier-Gorlin Syndrome Type 2 NGS Genetic DNA Test at our state-of-the-art facilities across the United States. Our comprehensive network includes specialized testing centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Each location maintains the highest standards of genetic testing excellence and patient care.
Schedule Your Genetic Test Today
Take the first step toward definitive diagnosis and personalized care management. Our experienced genetic counselors are available to discuss your testing options, address concerns, and guide you through the testing process. Contact us today to schedule your appointment or learn more about our comprehensive genetic testing services.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team is committed to providing exceptional genetic testing services with compassionate patient care. We understand the importance of accurate diagnosis and are here to support you throughout your genetic testing journey.
