NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Cornelia de Lange Syndrome
The NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals suspected of having Cornelia de Lange Syndrome (CdLS). This sophisticated test utilizes next-generation sequencing technology to analyze the NIPBL gene, which plays a critical role in the cohesin complex responsible for chromosome segregation and gene regulation during development.
What Does This Test Measure?
This advanced genetic test specifically targets the NIPBL gene (Nipped-B-like protein), which encodes a key regulatory protein in the cohesin complex. The test detects:
- Point mutations in the NIPBL gene coding regions
- Small insertions and deletions affecting gene function
- Copy number variations impacting gene dosage
- Splice site mutations that disrupt normal protein production
- Pathogenic variants associated with CdLS Type 1
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with clinical features suggestive of Cornelia de Lange Syndrome, including:
- Characteristic Facial Features: Arched eyebrows, long eyelashes, thin downturned lips, and small widely spaced teeth
- Growth Abnormalities: Prenatal and postnatal growth retardation, low birth weight
- Developmental Delays: Intellectual disability ranging from mild to severe
- Limb Malformations: Small hands and feet, missing fingers or toes, limb reduction defects
- Gastrointestinal Issues: Gastroesophageal reflux, feeding difficulties
- Behavioral Characteristics: Autism spectrum behaviors, self-injurious tendencies
Clinical Benefits of Genetic Testing
Undergoing the NIPBL Gene Cornelia de Lange Syndrome Type 1 test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out CdLS with high accuracy
- Personalized Management: Enables tailored medical care and intervention strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely implementation of developmental therapies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances scientific understanding of CdLS and related disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Indicates the presence of a pathogenic NIPBL gene mutation confirming CdLS diagnosis
- Negative Result: Suggests that NIPBL mutations are not detected, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry mutations that could be passed to offspring
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test | $500 USD | $700 USD |
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, reliable results regardless of your location.
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history and physical examination findings
- Detailed family medical history spanning multiple generations
- Participation in genetic counseling session to create comprehensive pedigree analysis
- Informed consent for genetic testing and result disclosure
Sample Collection and Processing
Our test accommodates multiple sample types for your convenience:
- Blood Sample: Standard venous blood draw performed by trained phlebotomists
- Extracted DNA: Previously isolated DNA samples meeting quality specifications
- Blood Spot Cards: Convenient single-drop blood collection on FTA cards for remote testing
Turnaround time for results is typically 3-4 weeks from sample receipt at our laboratory.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of Cornelia de Lange Syndrome, don’t wait to get answers. Our comprehensive NIPBL genetic testing provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin your journey toward understanding.
Call or WhatsApp us now at +1(267) 388-9828 to book your NIPBL Gene Cornelia de Lange Syndrome Type 1 NGS Genetic DNA Test and take control of your genetic health.
