CRBN Gene Mental Retardation Autosomal Recessive Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neurological Development Disorders
The CRBN Gene Mental Retardation Autosomal Recessive Type 2 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test utilizes next-generation sequencing technology to identify specific mutations in the CRBN (Cereblon) gene, which plays a crucial role in brain development and cognitive function. When mutations occur in this gene, they can lead to autosomal recessive intellectual disability type 2, a condition characterized by significant developmental challenges and neurological impairments.
What Does This Test Measure and Detect?
This sophisticated genetic analysis specifically targets the CRBN gene located on chromosome 3p26.2. The test employs high-throughput sequencing to identify:
- Point mutations and single nucleotide variants in the CRBN gene
- Small insertions and deletions affecting gene function
- Copy number variations that may impact gene expression
- Pathogenic variants associated with autosomal recessive inheritance patterns
- Novel mutations that may not be documented in existing databases
The CRBN gene encodes the cereblon protein, which functions as a substrate receptor for the CRL4A E3 ubiquitin ligase complex. This protein complex is essential for normal neurological development, and mutations can disrupt crucial cellular processes in the brain.
Who Should Consider This Genetic Test?
This test is recommended for individuals displaying symptoms or having risk factors for CRBN-related neurological conditions:
- Children with unexplained intellectual disability or developmental delays
- Individuals with family history of autosomal recessive intellectual disability
- Patients with neurological symptoms without clear diagnosis
- Couples planning pregnancy with known family history of CRBN mutations
- Individuals from populations with higher incidence of consanguineous marriages
- Patients with co-occurring neurological and physical developmental issues
Clinical Symptoms and Indications
Common clinical presentations that may indicate the need for CRBN gene testing include:
- Significant intellectual disability ranging from moderate to severe
- Delayed motor milestones and speech development
- Behavioral abnormalities including autism spectrum features
- Microcephaly or abnormal head circumference
- Facial dysmorphism and distinctive physical characteristics
- Seizures or epilepsy disorders
- Growth retardation and feeding difficulties
Benefits of CRBN Gene Testing
Accurate Diagnosis and Personalized Care
Receiving a definitive genetic diagnosis through CRBN gene testing provides numerous advantages for patients and families:
- Precise Diagnosis: Eliminates diagnostic uncertainty and provides clear genetic confirmation
- Personalized Treatment Planning: Enables targeted interventions and specialized care approaches
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of developmental therapies and educational support
- Research Participation: Opens opportunities for clinical trials and emerging treatment options
- Family Understanding: Helps siblings and extended family members understand inheritance patterns
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your CRBN gene test results:
- Positive Result: Indicates the presence of pathogenic mutations in both copies of the CRBN gene, confirming the diagnosis of autosomal recessive intellectual disability type 2
- Carrier Status: Identifies individuals with one mutated copy who are typically asymptomatic but can pass the condition to offspring
- Negative Result: Suggests that CRBN gene mutations are not the cause of the neurological symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research to determine clinical significance
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | CRBN Gene Mental Retardation Autosomal Recessive Type 2 NGS Genetic DNA Test | – |
| Discount Price | Limited Time Offer | $500 |
| Regular Price | Standard Rate | $700 |
| Turnaround Time | Comprehensive Analysis | 3-4 Weeks |
| Sample Type | Multiple Options Available | Blood, Extracted DNA, or FTA Card |
Pre-Test Requirements and Preparation
To ensure accurate results and comprehensive care, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to discuss testing implications
- Development of detailed family pedigree chart
- Review of previous neurological evaluations and testing
- Discussion of potential outcomes and their implications
Nationwide Accessibility and Support
General Genetics Corporation provides comprehensive CRBN gene testing services across the United States. Our state-of-the-art laboratories and genetic counseling teams are available in major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Midwest locations
- Houston and Texas facilities
- Phoenix and Southwest centers
- Multiple additional locations nationwide
Take the Next Step in Neurological Health
Understanding your genetic profile is the first step toward personalized neurological care. Our team of board-certified geneticists, neurologists, and genetic counselors are dedicated to providing comprehensive support throughout your testing journey.
Ready to schedule your CRBN Gene Mental Retardation Autosomal Recessive Type 2 NGS Genetic DNA Test? Contact our genetic specialists today to discuss your testing needs and schedule an appointment.
Call or WhatsApp: +1(267) 388-9828
Our genetic counseling team is available to answer your questions, explain the testing process, and help you understand how CRBN gene analysis can provide valuable insights for your neurological health management.
