Comprehensive Description of Genetic Testing Offered by Medex Laboratories Inc.
Medex Laboratories Inc. offers a wide range of genetic tests to identify hereditary conditions, genetic mutations, and disease predispositions. These tests utilize Next-Generation Sequencing (NGS) and other molecular diagnostic techniques to analyze DNA for disease-causing genetic variants.
Understanding Primary Immunodeficiency (PI)
Primary Immunodeficiency (PI) refers to a group of over 400 rare genetic disorders that impair the immune system’s ability to defend against infections. Patients with PI experience recurrent infections, autoimmune complications, and an increased risk of malignancies. These disorders are caused by genetic mutations affecting immune function.
What is NGS Testing for Primary Immunodeficiency?
Next-Generation Sequencing (NGS) is an advanced genetic testing method that allows for the simultaneous analysis of multiple genes associated with Primary Immunodeficiency disorders. This technology provides a rapid, cost-effective, and comprehensive approach to identifying genetic variants that contribute to immune dysfunction.
Who Should Consider NGS Testing for PI?
NGS testing is recommended for individuals who experience:
- Frequent, persistent, or severe infections
- A family history of Primary Immunodeficiency disorders
- Autoimmune conditions with an unclear genetic basis
- Poor response to standard treatments for infections
- Unexplained low white blood cell counts or immune dysregulation
Benefits of NGS Testing for PI
- Comprehensive Analysis – Screens multiple PI-related genes in a single test
- High Accuracy – Identifies single nucleotide variants (SNVs), insertions/deletions, and copy number variations (CNVs)
- Early Diagnosis – Enables timely medical intervention and treatment planning
- Personalized Treatment – Helps tailor therapies based on the genetic profile
- Family Screening – Assists in identifying at-risk family members for early intervention
How is the Test Performed?
- Sample Collection – A blood or saliva sample is taken at a certified laboratory or healthcare facility.
- DNA Extraction & Sequencing – DNA is extracted and analyzed using NGS technology to detect genetic mutations.
- Bioinformatics Analysis – Advanced software interprets genetic variants and their relevance to Primary Immunodeficiency.
- Clinical Report – A geneticist reviews the results, and a report is provided to the patient’s healthcare provider for further guidance.
Genes Commonly Tested in PI NGS Panels
NGS panels for Primary Immunodeficiency typically analyze genes associated with:
- Antibody Deficiencies (e.g., BTK, IGHM, TNFRSF13B)
- Combined Immunodeficiencies (e.g., IL2RG, ADA, RAG1/RAG2)
- Phagocytic Defects (e.g., CYBB, NCF1, NCF2)
- Complement Deficiencies (e.g., C1QA, C2, C3)
- Autoinflammatory Disorders (e.g., MEFV, NLRP3, TNFAIP3)
Interpreting the Results
- Pathogenic Variant Detected – Indicates a known disease-causing mutation; management strategies will be recommended.
- Likely Pathogenic Variant – Suggests a probable disease association requiring further clinical correlation.
- Variant of Uncertain Significance (VUS) – Requires additional research and family testing for clarification.
- No Pathogenic Variants Detected – Does not completely rule out PI but reduces genetic predisposition likelihood.
What Happens After Testing?
- Your healthcare provider will review the results and discuss treatment or preventive strategies.
- Genetic counseling may be recommended to help you understand the implications of your results.
- In some cases, additional tests may be required for further clarification.
Insurance & Cost
NGS testing for PI may be covered by insurance based on medical necessity. Check with your provider for details. Out-of-pocket costs may vary based on the panel size and additional bioinformatics analysis required.
Why Choose Our Lab for NGS PI Testing?
✅ Advanced NGS Technology – State-of-the-art sequencing methods for accurate genetic profiling.
✅ Certified Laboratory – Tests performed in CLIA-certified and CAP-accredited facilities.
✅ Comprehensive Panels – Covers all major PI-associated genes for thorough analysis.
✅ Fast Turnaround Time – Results available within 2-4 weeks.
✅ Expert Genetic Counseling – Professional support to interpret and act on results.
Understanding Neurological Genetic Disorders
Neurological disorders can be caused by genetic mutations affecting the nervous system, leading to conditions such as epilepsy, movement disorders, neurodegenerative diseases, and neuropathies. Identifying the genetic basis of these conditions is crucial for early diagnosis, treatment planning, and family risk assessment.
What is Comprehensive Neurology Genetic Testing?
Comprehensive Neurology Genetic Testing uses Next-Generation Sequencing (NGS) and Whole Exome Sequencing (WES) to analyze multiple genes associated with neurological conditions in a single test. This advanced approach provides a precise diagnosis, guiding personalized treatment strategies.
Who Should Consider Neurology Genetic Testing?
Genetic testing may be beneficial for individuals with:
- Unexplained neurological symptoms such as seizures, tremors, or muscle weakness
- A family history of neurological disorders
- Early-onset neurodegenerative conditions
- Developmental delays or intellectual disabilities
- Progressive movement disorders
- Neuromuscular disorders such as muscular dystrophy or neuropathy
Conditions Covered by Neurology Genetic Testing
Our comprehensive panel screens for a wide range of neurological conditions, including but not limited to:
Epilepsy & Seizure Disorders
- Dravet Syndrome (SCN1A gene)
- Lennox-Gastaut Syndrome
- Childhood Absence Epilepsy
- Genetic Generalized Epilepsy
Neurodegenerative Diseases
- Alzheimer’s Disease (APOE, PSEN1, PSEN2)
- Parkinson’s Disease (LRRK2, SNCA)
- Amyotrophic Lateral Sclerosis (ALS) (SOD1, FUS, TARDBP)
- Huntington’s Disease (HTT gene mutation)
Neuromuscular & Peripheral Nerve Disorders
- Charcot-Marie-Tooth Disease (CMT1A, CMT2)
- Duchenne and Becker Muscular Dystrophy (DMD gene)
- Spinal Muscular Atrophy (SMA) (SMN1, SMN2)
- Myasthenia Gravis
Movement Disorders
- Dystonia (DYT1, THAP1)
- Essential Tremor
- Hereditary Spastic Paraplegia
Autism Spectrum & Neurodevelopmental Disorders
- Rett Syndrome (MECP2)
- Fragile X Syndrome (FMR1)
- Angelman Syndrome
- Intellectual Disabilities with known genetic mutations
Demyelinating & Neuroinflammatory Diseases
- Multiple Sclerosis (MS susceptibility genes)
- Leukodystrophies
- Autoimmune Encephalopathy
How is the Test Performed?
- Sample Collection – A simple blood or saliva sample is collected.
- Genetic Sequencing – Using state-of-the-art NGS technology, we analyze DNA for mutations in targeted neurological genes.
- Bioinformatics Analysis – Advanced AI-driven tools interpret results to detect pathogenic variants.
- Expert Interpretation – A board-certified geneticist reviews and validates the findings.
- Clinical Report & Consultation – A detailed report is provided to your physician for personalized treatment planning.
Benefits of Comprehensive Neurology Genetic Testing
✅ Early & Accurate Diagnosis – Detects genetic causes before symptoms progress.
✅ Targeted Treatment Options – Helps personalize medical interventions based on genetic findings.
✅ Family Risk Assessment – Identifies hereditary risks for family members.
✅ Better Disease Management – Helps predict disease progression and prognosis.
✅ Access to Clinical Trials – Provides eligibility for new treatments and research studies.
Interpreting the Test Results
- Pathogenic Variant Identified – A known disease-causing mutation is detected, guiding treatment decisions.
- Likely Pathogenic Variant – A probable mutation is found, requiring further clinical correlation.
- Variant of Uncertain Significance (VUS) – Further testing or family studies may be needed.
- No Pathogenic Variants Detected – Does not rule out the disease but reduces genetic risk probability.
What Happens After Testing?
After receiving your results, your healthcare provider may:
- Recommend lifestyle changes or medications tailored to your genetic profile.
- Refer you to genetic counseling for a better understanding of inherited risks.
- Suggest additional testing if further analysis is needed.
- Discuss preventive strategies or clinical trial opportunities.
Insurance & Cost Information
Many insurance providers cover genetic testing for neurological conditions based on medical necessity. Our team can assist with pre-authorization and billing inquiries to determine coverage options.
Why Choose Our Lab for Neurology Genetic Testing?
✔ Comprehensive Gene Panels – Covers all major genes linked to neurological disorders.
✔ CLIA-Certified & CAP-Accredited Lab – Ensures the highest testing accuracy.
✔ Fast Turnaround Time – Results available within 2-4 weeks.
✔ Advanced NGS Technology – High-depth sequencing with expert validation.
✔ Genetic Counseling Support – Guidance to help you understand and act on your results.
Understanding Cardio-Pulmonary Genetic Disorders
Cardiovascular and pulmonary diseases can have a strong genetic component, impacting heart function, blood circulation, and lung health. Cardio-Pulmonary Combined Genetic Testing is a specialized diagnostic tool designed to detect inherited mutations associated with heart diseases, arrhythmias, blood vessel disorders, and pulmonary conditions. Early genetic screening can help in preventing, managing, and treating these conditions more effectively.
What is Cardio-Pulmonary Genetic Testing?
This test uses Next-Generation Sequencing (NGS) to analyze multiple genes linked to congenital heart defects, cardiomyopathies, arrhythmias, pulmonary hypertension, and lung disorders in a single comprehensive panel. The goal is to identify inherited risks, enable early interventions, and guide personalized treatment plans.
Who Should Consider This Testing?
You may benefit from Cardio-Pulmonary Genetic Testing if you have:
✅ A family history of sudden cardiac death or unexplained heart conditions
✅ Recurrent episodes of chest pain, shortness of breath, or palpitations
✅ Diagnosed with cardiomyopathy, arrhythmia, or heart failure at an early age
✅ Unexplained episodes of hypertension or pulmonary complications
✅ A personal or family history of deep vein thrombosis (DVT) or pulmonary embolism
✅ Genetic predisposition to Marfan syndrome, Ehlers-Danlos syndrome, or connective tissue disorders
Conditions Covered by Cardio-Pulmonary Genetic Testing
This test screens for genetic variants linked to both cardiovascular and pulmonary diseases, including:
- Hereditary Heart Conditions
- Cardiomyopathies: Hypertrophic (HCM), Dilated (DCM), Arrhythmogenic Right Ventricular (ARVC), and Restrictive (RCM)
- Congenital Heart Defects: Atrial and Ventricular Septal Defects (ASD, VSD), Aortic Aneurysms
- Arrhythmias: Long QT Syndrome (LQTS), Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- Coronary Artery Disease: Early-onset Atherosclerosis, Familial Hypercholesterolemia
- Inherited Pulmonary Disorders
- Pulmonary Hypertension: BMPR2 and other genes linked to Idiopathic Pulmonary Arterial Hypertension (IPAH)
- Cystic Fibrosis (CFTR Mutations)
- Alpha-1 Antitrypsin Deficiency (AATD) (SERPINA1 gene) – a genetic cause of emphysema and COPD
- Hereditary Hemorrhagic Telangiectasia (HHT) – associated with abnormal blood vessel formation in the lungs
- Clotting & Vascular Disorders
- Thrombophilia & Clotting Disorders: Factor V Leiden Mutation, Prothrombin G20210A Mutation
- Aortic and Vascular Diseases: Marfan Syndrome (FBN1 gene), Loeys-Dietz Syndrome (TGFBR1/2 genes)
- Pulmonary Embolism & Deep Vein Thrombosis (DVT) risk factors
How is the Test Performed?
1️⃣ Sample Collection – A blood or saliva sample is collected at a certified lab or healthcare provider’s office.
2️⃣ DNA Sequencing & Variant Analysis – Our NGS platform scans for clinically significant mutations.
3️⃣ Bioinformatics Interpretation – Advanced AI-driven analysis identifies pathogenic variants.
4️⃣ Clinical Report Review – Results are interpreted by board-certified geneticists.
5️⃣ Consultation & Next Steps – Your doctor will discuss treatment, lifestyle modifications, and preventive care.
Benefits of Cardio-Pulmonary Genetic Testing
💙 Early Risk Detection – Identifies inherited heart & lung conditions before symptoms appear
💙 Personalized Treatment – Enables targeted medications and interventions
💙 Family Risk Assessment – Helps identify relatives at risk and recommend preventive care
💙 Access to Clinical Trials – Qualifies patients for advanced treatment options
💙 Guidance for Lifestyle Adjustments – Assists in modifying diet, exercise, and medical follow-ups
Interpreting Your Results
- Pathogenic Variant Identified – A confirmed disease-causing mutation; treatment and monitoring are advised.
- Likely Pathogenic Variant – A probable genetic mutation linked to disease; further evaluation is recommended.
- Variant of Uncertain Significance (VUS) – More research or family testing may be needed for confirmation.
- No Pathogenic Variant Detected – This reduces but does not eliminate your genetic risk.
What Happens After Testing?
Based on your results, your doctor may:
🔹 Recommend lifestyle changes and medical therapies
🔹 Suggest preventive screenings for family members
🔹 Provide referrals to specialists for genetic counseling
🔹 Discuss potential inclusion in clinical trials for new therapies
Insurance & Cost Coverage
Many insurance providers cover genetic testing for inherited cardiovascular and pulmonary diseases when deemed medically necessary. Our team can assist with pre-authorization and billing inquiries to determine your coverage.
Why Choose Our Lab for Cardio-Pulmonary Genetic Testing?
✔ Comprehensive NGS Panels – Covers all major heart and lung disease-related genes
✔ CLIA-Certified & CAP-Accredited Lab – Highest standard of genetic testing accuracy
✔ Fast Turnaround Time – Results typically available within 2-4 weeks
✔ Expert Genetic Counseling – Interpretation and recommendations for patient management
✔ Advanced AI-Driven Analysis – High-precision variant detection.
Understanding Genetic Eye Disorders
Many eye diseases and vision impairments have a genetic component, meaning they are inherited and passed down through families. Genetic testing for eye disorders helps identify mutations in genes responsible for vision loss, retinal diseases, corneal disorders, and optic nerve conditions. Early detection through genetic screening allows for personalized treatment, preventive strategies, and family risk assessment.
What is Eye Disorders Genetic Testing?
Eye Disorders Genetic Testing uses Next-Generation Sequencing (NGS) and other molecular diagnostics to analyze genes associated with inherited eye diseases. This test provides accurate risk assessment and early intervention options, helping ophthalmologists and genetic counselors personalize treatment plans.
Who Should Consider Genetic Testing for Eye Disorders?
Genetic testing is recommended for individuals who:
✅ Have a family history of hereditary eye diseases
✅ Experience progressive vision loss with no clear cause
✅ Have been diagnosed with early-onset cataracts, glaucoma, or macular degeneration
✅ Show signs of retinal degeneration or optic nerve abnormalities
✅ Have unexplained night blindness, color blindness, or corneal disorders
✅ Need a personalized treatment approach for a known genetic eye condition
Eye Disorders Covered by Genetic Testing
- Retinal & Macular Degeneration Disorders
- Retinitis Pigmentosa (RP) – Mutations in RHO, PRPH2, RPGR genes
- Stargardt Disease – ABCA4 gene mutations affecting the macula
- Macular Degeneration (AMD) – CFH, ARMS2, and HTRA1 gene mutations
- Glaucoma & Optic Nerve Disorders
- Primary Open-Angle Glaucoma (POAG) – MYOC, OPTN, TBK1 gene mutations
- Congenital Glaucoma – CYP1B1 and LTBP2 gene variants
- Leber Hereditary Optic Neuropathy (LHON) – Mitochondrial DNA mutations in MT-ND1, MT-ND4, and MT-ND6
- Corneal & Lens Disorders
- Keratoconus – Associated with mutations in VSX1, SOD1
- Congenital Cataracts – Mutations in CRYAA, CRYAB, GJA8 genes
- Fuchs’ Endothelial Dystrophy – TCF4 gene mutations
- Pediatric & Developmental Eye Disorders
- Aniridia (Absence of the Iris) – PAX6 gene mutations
- Albinism (Oculocutaneous & Ocular) – TYR, OCA2, GPR143 gene mutations
- Coloboma (Missing Eye Tissue) – Associated with SHH, PAX6, and CHD7 genes
- Color Vision Deficiencies & Night Blindness
- Achromatopsia (Complete Color Blindness) – CNGA3, CNGB3 gene mutations
- Blue Cone Monochromacy – OPN1MW, OPN1LW gene mutations
- Congenital Stationary Night Blindness (CSNB) – NYX, CACNA1F gene mutations
How is Genetic Testing for Eye Disorders Performed?
1️⃣ Sample Collection – A blood or saliva sample is collected in a certified lab.
2️⃣ DNA Sequencing & Mutation Analysis – NGS technology scans eye disease-related genes.
3️⃣ Bioinformatics Interpretation – Advanced AI-driven software identifies mutations.
4️⃣ Expert Genetic Review – Board-certified geneticists validate and interpret findings.
5️⃣ Clinical Report & Consultation – A detailed report is shared with your physician for personalized treatment.
Benefits of Eye Disorders Genetic Testing
👁 Early Risk Detection – Identifies hereditary eye diseases before vision loss occurs
🔬 Targeted Treatment Approaches – Helps personalize treatments, including gene therapy eligibility
👨⚕️ Family Risk Assessment – Assists in determining genetic risks for family members
🛑 Prevention & Vision Preservation – Enables early intervention and lifestyle modifications
⚕ Guidance for Clinical Trials – Provides eligibility for emerging gene therapy treatments
Understanding Your Test Results
- Pathogenic Variant Identified – Confirms a genetic mutation linked to an eye disorder. Your doctor will recommend monitoring, treatment, or genetic counseling.
- Likely Pathogenic Variant – A probable mutation requiring further clinical evaluation.
- Variant of Uncertain Significance (VUS) – The mutation’s impact is unclear; additional testing may be needed.
- No Pathogenic Variant Detected – Does not eliminate the risk but indicates no known inherited mutations.
Next Steps After Genetic Testing
Based on your results, your doctor may:
👓 Recommend lifestyle adjustments to protect eye health
🧬 Refer you for genetic counseling to assess family risk factors
🔬 Enroll you in clinical trials for gene therapy advancements
👁 Prescribe early intervention treatments to slow disease progression
Insurance & Cost Considerations
Many insurance providers cover genetic testing for hereditary eye diseases if there is a family history or medical necessity. Our team can assist with pre-authorization, insurance claims, and financial assistance programs.
Why Choose Our Lab for Eye Disorders Genetic Testing?
✔ Comprehensive Genetic Panels – Covers all major inherited eye disease genes
✔ CLIA-Certified & CAP-Accredited Lab – Ensures high accuracy & quality
✔ Fast Turnaround Time – Results available within 2-4 weeks
✔ Expert Genetic Counseling – Support for interpreting and acting on results
✔ Advanced NGS Technology – Uses high-depth genetic sequencing for precise analysis
What is CGx Testing?
CGx (Hereditary Cancer Genomics) Testing is a specialized genetic test that analyzes inherited genetic mutations that may increase an individual’s risk for developing certain types of cancer. Using Next-Generation Sequencing (NGS), this test examines genes known to be associated with hereditary cancer syndromes, providing valuable insight into cancer risk assessment, early detection, and personalized treatment strategies.
Who Should Consider CGx Testing?
You may benefit from CGx testing if you have:
✅ A personal or family history of cancer diagnosed before the age of 50
✅ A family history of multiple cases of the same type of cancer
✅ A known genetic mutation (e.g., BRCA1/BRCA2) in your family
✅ A personal history of multiple primary cancers
✅ A rare or unusual type of cancer, such as male breast cancer or ovarian cancer
✅ Ashkenazi Jewish ancestry, which is linked to a higher prevalence of BRCA mutations
Types of Cancer Screened in CGx Testing
CGx testing helps identify inherited gene mutations linked to several types of hereditary cancers, including:
- Breast & Ovarian Cancer
- BRCA1 & BRCA2 mutations (Hereditary Breast and Ovarian Cancer Syndrome – HBOC)
- PALB2, ATM, CHEK2, RAD51D mutations
- TP53 (Li-Fraumeni Syndrome)
- Colorectal & Gastrointestinal Cancer
- APC (Familial Adenomatous Polyposis – FAP)
- MLH1, MSH2, MSH6, PMS2 (Lynch Syndrome)
- STK11 (Peutz-Jeghers Syndrome)
- Prostate Cancer
- BRCA2, HOXB13 mutations
- ATM, CHEK2, NBN mutations
- Pancreatic Cancer
- BRCA1, BRCA2, ATM, PALB2 mutations
- CDKN2A, STK11, TP53 mutations
- Melanoma (Skin Cancer)
- CDKN2A, BAP1 mutations
- Endometrial & Uterine Cancer
- Lynch Syndrome genes (MLH1, MSH2, MSH6, PMS2, EPCAM)
- Kidney Cancer
- VHL (Von Hippel-Lindau Syndrome)
- FH, MET mutations
- Thyroid Cancer
- RET mutations (Multiple Endocrine Neoplasia – MEN2)
- PTEN (Cowden Syndrome)
- Brain Tumors & Sarcomas
- TP53 (Li-Fraumeni Syndrome)
- NF1, NF2 (Neurofibromatosis)
How is CGx Testing Performed?
🩸 Step 1: Sample Collection – A simple blood or saliva sample is collected at a certified laboratory.
🧬 Step 2: DNA Sequencing – Our Next-Generation Sequencing (NGS) technology analyzes cancer-related genes.
🖥 Step 3: Bioinformatics Analysis – AI-driven software identifies genetic mutations linked to hereditary cancers.
📑 Step 4: Expert Genetic Review – Board-certified geneticists validate and interpret the results.
👩⚕️ Step 5: Personalized Report & Consultation – A detailed clinical report is provided to your physician for further guidance.
Benefits of CGx Testing
💡 Early Cancer Detection – Helps identify high-risk individuals before symptoms develop.
🔬 Personalized Treatment Options – Guides targeted therapies and treatment plans.
👪 Family Risk Assessment – Assists in determining cancer risks for relatives.
🧑⚕️ Preventive Measures & Screening Recommendations – Enables early intervention strategies.
📊 Clinical Trial Access – Identifies eligibility for new treatments and studies.
Interpreting Your Results
- Pathogenic Variant Identified – A confirmed inherited mutation linked to increased cancer risk. Preventive care and risk reduction strategies are advised.
- Likely Pathogenic Variant – A probable mutation requiring clinical follow-up for risk assessment.
- Variant of Uncertain Significance (VUS) – The mutation’s impact is unclear; further family testing or research may be needed.
- No Pathogenic Variant Detected – This does not eliminate cancer risk but indicates no known inherited mutations.
Next Steps After CGx Testing
- Risk Reduction Strategies: Lifestyle changes, risk-reducing surgeries, medications (e.g., Tamoxifen for BRCA mutation carriers).
- Increased Surveillance: Early and more frequent screenings such as mammograms, colonoscopies, PSA tests, or MRI scans.
- Genetic Counseling: Discussion of implications for you and your family members.
- Targeted Treatment: Some genetic findings may qualify patients for personalized treatments such as PARP inhibitors for BRCA-positive cancers.
Insurance & Cost Considerations
CGx testing is often covered by insurance if a person meets medical necessity criteria. Our team can assist with pre-authorization, insurance claims, and financial assistance programs.
Why Choose Our Lab for CGx Testing?
✔ Comprehensive Genetic Panels – Covers all major hereditary cancer genes
✔ CLIA-Certified & CAP-Accredited Laboratory – Ensures the highest testing accuracy
✔ Rapid Turnaround Time – Results available within 2-4 weeks
✔ Expert Genetic Counseling – Support to help you understand and act on results
✔ Advanced NGS Technology – High-depth sequencing for the most accurate results
Understanding Thyroid Disorders
The thyroid gland plays a critical role in regulating metabolism, energy production, and overall hormonal balance. Genetic mutations can contribute to thyroid dysfunction, including hypothyroidism, hyperthyroidism, thyroid cancer, and autoimmune thyroid diseases such as Hashimoto’s thyroiditis and Graves’ disease.
Genetic testing for thyroid disorders helps identify inherited mutations that may increase a person’s risk of developing thyroid-related conditions, allowing for early detection, personalized treatment, and family risk assessment.
What is Thyroid Genetic Testing?
This test analyzes specific genes associated with thyroid disorders using Next-Generation Sequencing (NGS) technology. It helps detect genetic mutations that influence thyroid hormone production, autoimmune responses, and thyroid cancer susceptibility.
Who Should Consider Genetic Testing for Thyroid Disorders?
Genetic testing may be beneficial for individuals who:
✅ Have a family history of thyroid disorders (hypothyroidism, hyperthyroidism, or thyroid cancer)
✅ Have early-onset or severe thyroid dysfunction that does not respond to standard treatments
✅ Are diagnosed with multiple endocrine neoplasia (MEN) syndromes
✅ Have recurrent thyroid nodules or medullary thyroid carcinoma (MTC)
✅ Have autoimmune thyroid diseases such as Hashimoto’s thyroiditis or Graves’ disease
✅ Need a personalized treatment plan based on genetic findings
Thyroid Disorders Covered by Genetic Testing
- Congenital Hypothyroidism
- TSHR Gene – Thyroid-stimulating hormone receptor mutations
- DUOX2, PAX8, NKX2-1 Genes – Affect thyroid hormone synthesis and development
- Autoimmune Thyroid Diseases
- CTLA4, PTPN22, HLA-DR3, HLA-DR5 – Linked to Hashimoto’s thyroiditis and Graves’ disease
- Thyroid Cancer Genetic Risk Assessment
- RET Gene (Multiple Endocrine Neoplasia Type 2 – MEN2A, MEN2B) – Associated with Medullary Thyroid Carcinoma (MTC)
- BRAF, TERT, TP53 Mutations – Associated with Papillary and Anaplastic Thyroid Carcinoma
- PTEN Gene – Cowden Syndrome (increased risk of thyroid cancer and other malignancies)
- Resistance to Thyroid Hormone (RTH)
- THRB Gene – Linked to reduced thyroid hormone sensitivity, leading to high T3/T4 but normal TSH levels
How is Genetic Testing for Thyroid Disorders Performed?
1️⃣ Sample Collection – A blood or saliva sample is collected at a certified laboratory.
2️⃣ DNA Extraction & Sequencing – Advanced NGS technology is used to analyze thyroid-related genes.
3️⃣ Bioinformatics Analysis – AI-driven tools identify genetic mutations linked to thyroid disorders.
4️⃣ Expert Genetic Review – A board-certified geneticist interprets the results.
5️⃣ Clinical Report & Consultation – A detailed report is sent to your physician for further guidance.
Benefits of Genetic Testing for Thyroid Disorders
💡 Early Risk Detection – Helps predict thyroid disorders before symptoms appear
🔬 Personalized Treatment – Tailors medications and therapies based on genetic profile
👪 Family Risk Assessment – Determines hereditary thyroid disorder risks for relatives
🧑⚕️ Prevention & Early Intervention – Enables lifestyle changes and monitoring for at-risk individuals
📊 Guides Surgical & Treatment Decisions – Determines whether thyroidectomy or radiation therapy is needed
Understanding Your Test Results
- Pathogenic Variant Identified – Confirms an inherited mutation linked to thyroid disorders.
- Likely Pathogenic Variant – Suggests a probable genetic risk, requiring clinical correlation.
- Variant of Uncertain Significance (VUS) – More research or family testing may be necessary.
- No Pathogenic Variants Detected – Does not eliminate risk, but lowers genetic predisposition probability.
Next Steps After Genetic Testing
Your physician may recommend:
- Increased screening (frequent TSH, T3/T4, thyroid ultrasound monitoring)
- Lifestyle modifications (iodine intake adjustments, dietary changes)
- Medication adjustments (e.g., dosing based on genetic metabolism)
- Family genetic counseling for at-risk relatives
- Thyroid surgery or targeted therapies for those at high risk of cancer
Insurance & Cost Considerations
Most insurance providers cover genetic testing for medically necessary thyroid conditions, especially for individuals with a family history or early-onset thyroid dysfunction. Our team assists with pre-authorization, insurance claims, and financial assistance programs.
Why Choose Our Lab for Thyroid Genetic Testing?
✔ Comprehensive Genetic Panels – Covers all major thyroid-related genes
✔ CLIA-Certified & CAP-Accredited Laboratory – Ensures high testing accuracy
✔ Fast Turnaround Time – Results available within 2-4 weeks
✔ Expert Genetic Counseling – Helps you interpret and act on results
✔ Advanced NGS Technology – High-depth genetic sequencing for precise analysis