Genodermatoses Exome Sequencing Panel
Comprehensive Genetic Testing for Inherited Skin Disorders
The Genodermatoses Exome Sequencing Panel represents a groundbreaking advancement in dermatological genetic testing, offering comprehensive analysis of over 20,000 genes associated with inherited skin conditions. This sophisticated diagnostic tool utilizes cutting-edge next-generation sequencing (NGS) technology to identify genetic mutations responsible for various genodermatoses – a group of rare genetic disorders affecting the skin, hair, and nails.
What This Test Measures and Detects
Our comprehensive panel examines the entire exome, focusing specifically on genes known to cause inherited skin disorders. The test detects:
- Point mutations, insertions, and deletions in coding regions
- Pathogenic variants associated with epidermolysis bullosa
- Mutations causing ichthyosis and related scaling disorders
- Genetic alterations in ectodermal dysplasia syndromes
- Variants responsible for pigmentary disorders and albinism
- Mutations linked to hereditary hair and nail abnormalities
- Genetic defects in connective tissue disorders affecting the skin
Who Should Consider This Test
This advanced genetic panel is recommended for individuals experiencing:
- Unexplained blistering or skin fragility from minor trauma
- Persistent scaling, thickening, or peeling of the skin
- Abnormal hair growth, texture, or premature hair loss
- Nail dystrophies or congenital nail abnormalities
- Unusual pigmentation patterns or complete absence of pigment
- Family history of inherited skin conditions
- Multiple affected family members with similar dermatological symptoms
- Children with congenital skin abnormalities
- Patients with complex dermatological presentations unresponsive to conventional treatments
Clinical Benefits of Genetic Testing
Undergoing the Genodermatoses Exome Sequencing Panel provides numerous advantages:
- Accurate Diagnosis: Provides definitive identification of specific genetic mutations
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management strategies for better outcomes
- Differential Diagnosis: Distinguishes between clinically similar conditions with different genetic causes
Understanding Your Test Results
Your comprehensive genetic report will include:
- Pathogenic Variants: Clearly identified disease-causing mutations with clinical significance
- Variant Classification: Detailed explanation of mutation impact and inheritance patterns
- Clinical Correlations: How identified variants relate to specific symptoms and conditions
- Management Recommendations: Evidence-based guidance for clinical follow-up and treatment
- Genetic Counseling Referral: When appropriate, recommendations for specialized genetic counseling services
Our genetic counselors and dermatology specialists are available to help interpret your results and discuss next steps for management and family screening.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Genodermatoses Exome Sequencing Panel | $750 USD | $1250 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, and San Jose. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about inherited skin conditions affect your quality of life. Our Genodermatoses Exome Sequencing Panel provides the comprehensive genetic information needed for accurate diagnosis and effective management strategies. With our special discounted price of $750 USD, advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your test or speak with our genetic specialists. Our team is ready to answer your questions and help you begin your journey toward genetic understanding and improved dermatological health.
Note: Sample collection requires 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes, shipped refrigerated. A duly filled Genodermatoses Exome Sequencing Consent Form (Form 48) is mandatory. Turnaround time: 30 working days from sample receipt.
