NALCN Gene Neuroaxonal Neurodegeneration Infantile with Facial Dysmorphism NGS Genetic DNA Test
Comprehensive Genetic Testing for Infantile Neurological Disorders
The NALCN Gene Neuroaxonal Neurodegeneration Infantile with Facial Dysmorphism NGS Genetic DNA Test represents a cutting-edge diagnostic tool in pediatric genetics. This specialized test utilizes next-generation sequencing technology to identify mutations in the NALCN gene, which plays a critical role in neuronal function and development. Early detection through this comprehensive genetic analysis can significantly impact treatment outcomes and family planning decisions.
What This Test Measures and Detects
This advanced genetic test specifically targets the NALCN gene, which encodes for sodium leak channels essential for maintaining neuronal resting potential and regulating neuronal excitability. The test detects:
- Point mutations, deletions, and insertions in the NALCN gene
- Pathogenic variants associated with neuroaxonal neurodegeneration
- Genetic markers linked to infantile-onset neurological disorders
- Inheritance patterns for family genetic counseling
Who Should Consider This Test
This genetic test is recommended for infants and young children presenting with the following symptoms:
- Developmental regression or delayed milestones
- Progressive neurological deterioration
- Characteristic facial dysmorphism features
- Hypotonia (reduced muscle tone)
- Seizures or abnormal movements
- Feeding difficulties and failure to thrive
- Abnormal brain imaging findings
- Family history of similar neurological conditions
Benefits of Genetic Testing
Undergoing the NALCN gene test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out NALCN-related disorders
- Early Intervention: Enables timely therapeutic interventions
- Family Planning: Provides information for genetic counseling and reproductive decisions
- Treatment Guidance: Helps tailor management strategies to specific genetic findings
- Prognostic Information: Offers insights into disease progression and expected outcomes
- Research Contribution: Contributes to medical knowledge about rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results:
- Positive Result: Indicates the presence of a pathogenic NALCN gene mutation, confirming the diagnosis of neuroaxonal neurodegeneration with facial dysmorphism
- Negative Result: Suggests that NALCN gene mutations are not the cause of the symptoms, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown, requiring ongoing monitoring and research
- Carrier Status: Determines if family members carry the mutation without showing symptoms
Test Pricing Information
| Test Description | Regular Price | Discount Price |
|---|---|---|
| NALCN Gene Neuroaxonal Neurodegeneration Infantile with Facial Dysmorphism NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We have conveniently located testing centers across the United States, serving 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 facilities ensure consistent, high-quality testing standards nationwide.
Take the Next Step Toward Diagnosis
If your child is experiencing symptoms suggestive of neuroaxonal neurodegeneration or if you have a family history of similar conditions, don’t wait to get answers. Our genetic counselors are available to discuss your concerns and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the NALCN gene test. Early diagnosis can make a significant difference in managing your child’s condition and planning for the future.
Note: This test requires pre-test genetic counseling and collection of detailed clinical history. Turnaround time for results is typically 3-4 weeks from sample receipt. Sample types accepted include blood, extracted DNA, or one drop of blood on FTA card.
