MCCC2 Gene 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency NGS Genetic DNA Test
Understanding MCCC2 Gene Deficiency
The MCCC2 Gene 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This specialized genetic test focuses on identifying mutations in the MCCC2 gene, which encodes a crucial enzyme involved in leucine metabolism. When this enzyme is deficient, the body cannot properly process certain amino acids, leading to the accumulation of toxic metabolites that can cause serious health complications.
3-Methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive metabolic disorder that affects the breakdown of the amino acid leucine. This condition can manifest with varying severity, ranging from asymptomatic cases to life-threatening metabolic crises. Early detection through genetic testing is essential for implementing appropriate dietary management and preventing long-term neurological damage.
What This Test Detects
Our advanced NGS Genetic DNA Test specifically targets:
- Pathogenic variants in the MCCC2 gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Insertions and deletions that disrupt gene expression
- Compound heterozygous mutations
- Carrier status for autosomal recessive inheritance
The test utilizes Next-Generation Sequencing technology, providing comprehensive coverage of the entire MCCC2 gene with exceptional accuracy and sensitivity. This approach ensures that even rare or novel mutations are detected, offering patients and families definitive diagnostic information.
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Abnormal newborn screening results showing elevated C5-OH acylcarnitines
- Unexplained metabolic acidosis or hypoglycemia
- Developmental delays or regression
- Hypotonia (poor muscle tone) in infancy
- Feeding difficulties and failure to thrive
- Seizures or neurological symptoms
- Family history of metabolic disorders
- Siblings of affected individuals
High-Risk Populations
The test is particularly important for:
- Infants with positive newborn screening results
- Children with unexplained metabolic symptoms
- Individuals from populations with higher carrier frequencies
- Couples with family history planning pregnancy
Benefits of Genetic Testing
Undergoing the MCCC2 Gene Deficiency Test provides numerous advantages:
- Early Intervention: Enables prompt dietary management to prevent metabolic crises
- Accurate Diagnosis: Provides definitive confirmation of 3-methylcrotonyl-CoA carboxylase deficiency
- Family Planning: Identifies carrier status for future reproductive decisions
- Personalized Treatment: Guides specific dietary restrictions and supplementation
- Prognostic Information: Helps predict disease severity and progression
- Peace of Mind: Reduces diagnostic uncertainty for families
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will fall into one of several categories:
Positive Result
A positive result indicates the presence of pathogenic mutations in both copies of the MCCC2 gene, confirming the diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency. This result requires immediate consultation with a metabolic specialist for comprehensive management planning.
Carrier Status
Identification of a single pathogenic mutation indicates carrier status. Carriers are typically asymptomatic but have a 25% chance of having an affected child if their partner is also a carrier.
Negative Result
A negative result suggests that no pathogenic mutations were detected in the MCCC2 gene. However, this does not completely rule out the possibility of metabolic disorders, and further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
Some genetic changes may be classified as VUS, meaning their clinical significance is currently unknown. These results require careful interpretation by genetic specialists and may warrant family studies for clarification.
Test Details and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | MCCC2 Gene 3-Methylcrotonyl-CoA Carboxylase 2 Deficiency NGS Genetic DNA Test | – |
| Discount Price | Limited time offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Results in 3-4 weeks | – |
| Sample Type | Blood, Extracted DNA, or One drop Blood on FTA Card | – |
| Testing Method | Next-Generation Sequencing (NGS) | – |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Informed consent for genetic testing
- Insurance pre-authorization if applicable
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, and San Jose. Our network of certified genetic counselors and metabolic specialists ensures comprehensive care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your family’s wellbeing. Our MCCC2 Gene Deficiency Test provides the clarity you need for informed healthcare decisions. With rapid turnaround times and expert genetic counseling support, we make genetic testing accessible and understandable.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and precision.
