POMC Gene Obesity with Adrenal Insufficiency and Red Hair NGS Genetic DNA Test
Understanding POMC Gene Disorders
The POMC Gene Obesity with Adrenal Insufficiency and Red Hair NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare endocrine disorders. This specialized test examines the pro-opiomelanocortin (POMC) gene, which plays a critical role in regulating appetite, energy balance, and adrenal function. Mutations in this gene can lead to a complex syndrome characterized by severe early-onset obesity, adrenal insufficiency, and distinctive red hair pigmentation.
What Does This Test Measure?
Our advanced NGS Genetic DNA Test specifically targets:
- Complete sequencing of the POMC gene to identify pathogenic variants
- Detection of mutations affecting pro-opiomelanocortin production
- Analysis of genetic changes impacting melanocortin receptor signaling
- Identification of variants associated with adrenal cortex dysfunction
- Assessment of genetic factors influencing pigmentation pathways
Clinical Significance of POMC Gene Mutations
The POMC gene encodes a precursor protein that is cleaved into several biologically active peptides, including adrenocorticotropic hormone (ACTH), melanocyte-stimulating hormones (MSH), and beta-endorphin. Mutations disrupting this pathway can lead to:
- Severe hyperphagia and early-onset obesity
- Primary adrenal insufficiency due to ACTH deficiency
- Altered pigmentation resulting in red hair
- Metabolic dysregulation and hormonal imbalances
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Severe obesity developing in infancy or early childhood
- Unexplained adrenal insufficiency symptoms
- Distinctive red hair pigmentation without family history
- Family history of POMC-related disorders
- Multiple endocrine abnormalities of unknown origin
- Failed responses to conventional obesity treatments
Symptoms Indicating Need for Testing
- Rapid weight gain beginning in first year of life
- Fatigue, weakness, and low blood pressure
- Hypoglycemia and salt craving
- Hyperpigmentation or unusual hair color
- Developmental delays in some cases
- Recurrent infections due to immune dysfunction
Benefits of POMC Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms genetic basis for complex symptoms
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Informs reproductive decisions and genetic counseling
- Early Intervention: Enables proactive management strategies
- Comprehensive Care: Facilitates multidisciplinary treatment planning
- Prognostic Information: Provides insight into disease progression
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
Positive Result
A positive result indicates the presence of pathogenic POMC gene mutations. This confirms the genetic diagnosis and enables:
- Implementation of targeted treatment strategies
- Regular monitoring for adrenal function
- Nutritional and metabolic management plans
- Family member testing recommendations
Negative Result
A negative result suggests that POMC gene mutations are not the cause of symptoms, guiding further diagnostic evaluation for alternative genetic or metabolic disorders.
Variant of Uncertain Significance
Some genetic changes may require additional family studies or functional analysis to determine clinical significance.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
Pre-Test Requirements
Before testing, we require:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree chart
- Documentation of symptoms and previous evaluations
- Informed consent for genetic testing
Nationwide Testing Availability
We have diagnostic centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health
Don’t let unexplained symptoms control your life. Our POMC Gene Obesity with Adrenal Insufficiency and Red Hair NGS Genetic DNA Test provides the answers you need for proper diagnosis and targeted treatment. Early genetic identification can significantly improve quality of life and treatment outcomes.
Ready to uncover the genetic basis of your symptoms? Book your test today or call our genetic specialists at +1(267) 388-9828 for personalized consultation and scheduling.
Our team of genetic counselors and endocrine specialists are available to guide you through the testing process and help interpret your results within the context of your overall health picture.
