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    Glossary Genetic Testing

    analyzing DNA to identify genetic mutations or predispositions

    Genetic testing, also known as DNA testing or genetic screening, involves analyzing an individual's DNA to identify changes or mutations that may indicate a risk for certain genetic disorders or diseases. This process can help diagnose conditions, guide treatment decisions, and inform individuals about their genetic predispositions, including those related to hair loss and alopecia.

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    1. Update on the Genetics of Androgenetic Alopecia, Female Pattern Hair Loss, and Alopecia Areata: Implications for Molecular Diagnostic Testing Seminars in Cutaneous Medicine and Surgery · 2012 · 11 citations
    2. For early diagnosis of young patients with Werner syndrome: Indication for genetic testing 2025
    3. Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights Curēus · 2024
    4. Case Study: Hereditary Cancer Genetic Testing in Unaffected Patients May Allow for Early Intervention and Aggressive Management Journal of Minimally Invasive Gynecology · 2014
    5. Testing the impact of trait prevalence priors in Bayesian-based genetic prediction modeling of human appearance traits Forensic Science International Genetics · 2020 · 5 citations
    6. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    7. The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues Annual Review of Genomics and Human Genetics · 2008 · 244 citations
    8. Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report Curēus · 2022
    9. Generic Development of Topical Dermatologic Products: Formulation Development, Process Development, and Testing of Topical Dermatologic Products The AAPS Journal · 2012 · 188 citations
    10. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    11. Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review Frontiers in Medicine · 2025
    12. Genetic Variant of the Canine FGF5 Gene for the Hair Length Trait in the Akita: Utility for Hair Coat Variations and Welfare in Conservation Breeding Genes · 2025
    13. Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis NeoReviews · 2024
    14. An interview Drs. Felix Brockschmidt and Markus Nöthen about the genetics of androgenetic alopecia Hair transplant forum international · 2009
    15. Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation International Journal of Molecular Sciences · 2026
    16. Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer Cancers · 2021 · 20 citations
    17. Clinical Findings, Cutaneous Pathology, and Response to Therapy in 21 Patients With Keratosis Pilaris Atrophicans Archives of dermatology · 1994 · 78 citations
    18. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full. Journal of Investigative Dermatology · 2002 · 69 citations
    19. Spinal and bulbar muscular atrophy: pathogenesis and clinical management Oral Diseases · 2013 · 42 citations
    20. Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies Familial cancer · 2012 · 39 citations
    21. Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach Frontiers in Endocrinology · 2019 · 30 citations
    22. The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis Clinical Endocrinology · 2015 · 25 citations
    23. New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report BMC Medical Genetics · 2017 · 23 citations
    24. Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions Journal of Investigative Dermatology · 2003 · 23 citations
    25. Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II Calcified tissue international · 2009 · 18 citations
    26. FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis Gene · 2017 · 17 citations
    27. A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy International Journal of Dermatology · 2012 · 13 citations
    28. DNA phenotyping: current application in forensic science Research and reports in forensic medical science · 2019 · 11 citations
    29. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions Human Genetics · 2019 · 10 citations
    30. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations