LONP1 Gene CODAS Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for CODAS Syndrome
The LONP1 Gene CODAS Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare developmental disorders. This advanced next-generation sequencing test specifically targets mutations in the LONP1 gene, which encodes the mitochondrial Lon protease. This enzyme plays a crucial role in protein quality control within mitochondria, and its dysfunction leads to the characteristic features of CODAS syndrome.
What Does This Test Detect?
This sophisticated genetic analysis identifies pathogenic variants in the LONP1 gene using cutting-edge NGS technology. The test specifically detects:
- Point mutations affecting mitochondrial protein processing
- Frameshift mutations disrupting Lon protease function
- Missense variants impacting enzyme activity
- Deletion/insertion mutations in the LONP1 coding region
- Compound heterozygous mutations causing autosomal recessive inheritance
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following symptoms or clinical features:
- Developmental delays and intellectual disability
- Distinctive facial features including prominent forehead and hypertelorism
- Dental anomalies such as delayed tooth eruption and enamel defects
- Hearing impairment or sensorineural hearing loss
- Skeletal abnormalities including vertebral anomalies and short stature
- Ocular manifestations like cataracts or visual impairment
- Family history suggestive of autosomal recessive inheritance pattern
Clinical Benefits of Early Diagnosis
Early identification through genetic testing provides numerous advantages for patients and families:
- Enables proactive management of developmental challenges
- Facilitates early intervention for hearing and vision problems
- Guides appropriate dental care planning
- Provides accurate genetic counseling for family planning
- Helps establish appropriate educational and therapeutic support
- Reduces diagnostic uncertainty and unnecessary medical testing
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Identifies specific LONP1 gene mutation, confirming CODAS syndrome diagnosis
- Negative Result: No pathogenic variants detected in LONP1 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals carrying one copy of mutated gene
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Pricing and Availability
| Test Name | Regular Price | Discount Price |
|---|---|---|
| LONP1 Gene CODAS Syndrome NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our comprehensive LONP1 Gene CODAS Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card, getting tested has never been more convenient.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
