TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test
Comprehensive Genetic Screening for Congenital Thyroid Disorders
The TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test represents a breakthrough in early detection and diagnosis of congenital thyroid disorders. This advanced genetic screening utilizes next-generation sequencing technology to identify specific mutations in the TSHR (Thyroid Stimulating Hormone Receptor) gene that cause congenital hypothyroidism without goiter formation. Early identification of this condition is crucial for preventing irreversible developmental damage and ensuring proper growth and neurological development in affected infants.
What This Test Measures and Detects
This comprehensive genetic test specifically targets the TSHR gene located on chromosome 14q31, which encodes the thyroid-stimulating hormone receptor protein. The test identifies:
- Point mutations in the TSHR gene affecting receptor function
- Missense mutations that impair TSH binding and signaling
- Nonsense mutations leading to truncated receptor proteins
- Frameshift mutations disrupting normal receptor structure
- Compound heterozygous mutations in familial cases
The NGS technology employed provides high-resolution analysis of the entire TSHR gene coding region, ensuring comprehensive mutation detection with exceptional accuracy and sensitivity exceeding 99%.
Clinical Indications: Who Should Consider This Test
This genetic test is recommended for individuals presenting with the following clinical scenarios:
- Newborns with abnormal thyroid screening results showing elevated TSH levels
- Infants with clinical signs of hypothyroidism including feeding difficulties, constipation, prolonged jaundice, and hypotonia
- Children with growth retardation and developmental delays of unknown etiology
- Family history of congenital hypothyroidism without goiter formation
- Siblings of affected individuals for carrier screening and early intervention
- Unexplained intellectual disability with suspected endocrine involvement
- Patients with resistance to thyroid hormone therapy requiring genetic confirmation
Key Benefits of TSHR Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Early Diagnosis and Intervention: Enables prompt initiation of thyroid hormone replacement therapy to prevent irreversible neurological damage
- Accurate Prognostic Information: Helps predict disease severity and guide appropriate treatment intensity
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decision-making
- Personalized Treatment Approach: Allows for tailored therapeutic strategies based on specific genetic mutations
- Prevention of Complications: Reduces risk of intellectual disability, growth failure, and metabolic disorders
- Cost-Effective Management: Early intervention significantly reduces long-term healthcare costs associated with untreated congenital hypothyroidism
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and endocrinology specialists:
- Positive Result: Identification of pathogenic mutations confirms the diagnosis of TSHR gene-related congenital hypothyroidism. Immediate referral to pediatric endocrinology for thyroid hormone replacement therapy is recommended.
- Negative Result: No pathogenic mutations detected in the TSHR gene. Alternative causes of congenital hypothyroidism should be investigated through additional testing.
- Variant of Uncertain Significance: Identification of genetic changes with unknown clinical impact. Additional family studies and functional testing may be recommended.
- Carrier Status: Identification of a single mutation in asymptomatic individuals, indicating carrier status for autosomal recessive inheritance.
All positive results include detailed interpretation of the specific mutation’s functional impact and clinical significance, along with personalized management recommendations.
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 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 |
| Specialty | Endocrinology, Genetics, Pediatrics |
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, the following preparations are required:
- Complete Clinical History: Detailed medical records including thyroid function tests, growth charts, and developmental milestones
- Genetic Counseling Session: Comprehensive pre-test genetic counseling to discuss test implications, limitations, and potential outcomes
- Family Pedigree Chart: Detailed three-generation family history documenting affected relatives and inheritance patterns
- Informed Consent: Thorough discussion of benefits, risks, and implications of genetic testing results
Nationwide Accessibility and Booking
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 collection centers ensures accessible testing for families nationwide.
Ready to take the next step in understanding your genetic health? Our dedicated team is available to schedule your test and answer any questions you may have about the TSHR Gene Hypothyroidism Congenital Nongoitrous Type 1 NGS Genetic DNA Test.
Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or request additional information about this comprehensive genetic screening.
Take control of your genetic health with advanced NGS technology and expert genetic counseling. Early detection through comprehensive genetic testing can make a significant difference in developmental outcomes and quality of life for individuals with congenital thyroid disorders.
