SCNN1G Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive NGS Genetic DNA Test
Understanding SCNN1G Gene Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disorder characterized by renal resistance to aldosterone, leading to severe salt-wasting and electrolyte imbalances. The autosomal recessive form, caused by mutations in the SCNN1G gene, represents one of the most critical endocrine disorders affecting infants and young children. This condition disrupts the epithelial sodium channel (ENaC) function, which is essential for sodium reabsorption in the kidneys, sweat glands, and colon.
The SCNN1G gene encodes the gamma subunit of the epithelial sodium channel, playing a vital role in maintaining sodium and fluid balance throughout the body. When mutations occur in this gene, the sodium channels fail to function properly, resulting in excessive sodium loss despite normal or elevated aldosterone levels. This genetic test provides crucial diagnostic information that can guide lifelong management strategies.
What This Test Detects
Our advanced NGS Genetic DNA Test specifically targets:
- Pathogenic variants in the SCNN1G gene affecting epithelial sodium channel function
- Autosomal recessive inheritance patterns of pseudohypoaldosteronism type 1
- Single nucleotide variants, insertions, deletions, and copy number variations
- Genetic mutations that disrupt sodium reabsorption in multiple organ systems
- Variants associated with systemic pseudohypoaldosteronism affecting kidneys, lungs, and sweat glands
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Infants with failure to thrive, poor weight gain, and dehydration
- Persistent hyponatremia (low sodium) and hyperkalemia (high potassium)
- Metabolic acidosis unresponsive to conventional treatments
- Family history of pseudohypoaldosteronism or unexplained infant deaths
- Recurrent salt-wasting crises despite normal aldosterone levels
- Respiratory symptoms in newborns suggesting multi-system involvement
- Unexplained electrolyte imbalances in early childhood
Clinical Benefits of Genetic Testing
Early diagnosis through SCNN1G genetic testing provides numerous advantages:
- Accurate Diagnosis: Confirms pseudohypoaldosteronism type 1 and differentiates from other salt-wasting disorders
- Personalized Treatment: Guides sodium supplementation and electrolyte management strategies
- Family Planning: Enables carrier testing and genetic counseling for at-risk relatives
- Prognostic Information: Helps predict disease severity and long-term outcomes
- Preventive Care: Allows for early intervention to prevent life-threatening complications
- Comprehensive Management: Supports multi-disciplinary care involving nephrology, endocrinology, and genetics specialists
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
Positive Result
Identification of pathogenic variants in both copies of the SCNN1G gene confirms autosomal recessive pseudohypoaldosteronism type 1. This result necessitates immediate medical intervention, including sodium supplementation, electrolyte monitoring, and specialized endocrine care. Genetic counseling is strongly recommended for family members.
Negative Result
No pathogenic variants detected in the SCNN1G gene. This typically rules out autosomal recessive pseudohypoaldosteronism type 1, though clinical correlation with symptoms and additional testing may be necessary to exclude other forms of salt-wasting disorders.
Variant of Uncertain Significance
Some genetic changes may have unclear clinical implications. In such cases, additional family studies and clinical correlation are recommended to determine the variant’s significance.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SCNN1G Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Current electrolyte levels and endocrine evaluation results
- Informed consent for genetic testing and potential implications
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s health and future. Our SCNN1G Gene Pseudohypoaldosteronism Type 1 test provides the clarity needed for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic analysis, you can make informed decisions about your healthcare.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
