GCDH Gene Glutaric Acidemia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Health
The GCDH Gene Glutaric Acidemia Type 1 NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, utilizing cutting-edge next-generation sequencing technology to identify mutations in the GCDH gene. This comprehensive genetic analysis plays a vital role in early detection and management of glutaric acidemia type 1, a rare inherited metabolic condition that affects the body’s ability to process specific amino acids properly.
What Does This Test Measure and Detect?
This advanced genetic screening specifically targets the GCDH (glutaryl-CoA dehydrogenase) gene, which provides instructions for producing an enzyme essential for breaking down the amino acids lysine, hydroxylysine, and tryptophan. The test detects:
- Pathogenic variants and mutations in the GCDH gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and complex rearrangements
- Both homozygous and heterozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test?
This comprehensive screening is recommended for individuals displaying symptoms or with risk factors including:
- Infants and children with developmental delays or regression
- Patients exhibiting movement disorders or dystonia
- Individuals with unexplained metabolic acidosis
- Children showing macrocephaly (enlarged head size)
- Patients with family history of metabolic disorders
- Newborns with abnormal newborn screening results
- Individuals with unexplained neurological symptoms
- Couples with family history planning pregnancy
Key Benefits of GCDH Genetic Testing
Choosing our advanced NGS genetic testing provides numerous advantages:
- Early Intervention: Enables prompt treatment before irreversible neurological damage occurs
- Accurate Diagnosis: Provides definitive confirmation of glutaric acidemia type 1
- Personalized Treatment: Guides specific dietary modifications and medical management
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Comprehensive Analysis: NGS technology detects both common and rare mutations
- Peace of Mind: Provides clarity and direction for affected families
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic GCDH mutations, confirming diagnosis of glutaric acidemia type 1
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene
All results are accompanied by detailed explanations and recommendations from our genetic counseling team.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| GCDH Gene Glutaric Acidemia Type 1 NGS Genetic DNA Test – Discount Price | $500 |
| GCDH Gene Glutaric Acidemia Type 1 NGS Genetic DNA Test – Regular Price | $700 |
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. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take Control of Your Metabolic Health Today
Don’t wait to get the answers you need for proper diagnosis and treatment of potential metabolic disorders. Our GCDH Gene Glutaric Acidemia Type 1 NGS Genetic DNA Test provides the comprehensive genetic information necessary for informed healthcare decisions and personalized treatment strategies.
Book your test now by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Early detection through advanced genetic testing can make a significant difference in managing metabolic health and preventing serious complications.
