Jaelion

Research

Full References

All sources cited across the Jaelion website, organized by reference number.

The following references are cited throughout the Jaelion website to support the clinical rationale for our testing categories. Sources include peer-reviewed literature, federal health agency guidance, and professional society guidelines. Click Cite on any entry to copy a formatted citation in APA or AMA style.

R1

Agency for Toxic Substances and Disease Registry (ATSDR). Toxicological Profiles. U.S. Department of Health and Human Services.

https://www.atsdr.cdc.gov/toxicological-profiles/about/index.html
R2

Agency for Toxic Substances and Disease Registry (ATSDR). (2001). Hair Analysis Panel Discussion: Exploring the State of the Science. Atlanta, GA: U.S. Department of Health and Human Services.

https://www.atsdr.cdc.gov/HAC/hair_analysis/2001/index.html
R3

Aggarwal D, et al. (2025). Large-scale characterisation of the nasal microbiome and its association with Staphylococcus aureus colonization. Nature Communications.

https://www.nature.com/articles/s41467-025-56044-y
R4

Alpert JP, Greiner KA & Hall S. (2004). Health fair screening: the clinical utility of the comprehensive metabolic profile. Family Medicine, 36(7), 514–519.

https://pubmed.ncbi.nlm.nih.gov/15243829/
R5

American Academy of Allergy, Asthma and Immunology (AAAAI). Food Sensitivity vs. Food Allergy. AAAAI.

https://www.aaaai.org/tools-for-the-public/allergy,-asthma-immunology-glossary/food-sensitivity-vs-food-allergy
R6

Carr AL, Daley MJ & Givens Merkel K. (2018). Clinical Utility of Methicillin-Resistant Staphylococcus aureus Nasal Screening for Antimicrobial Stewardship: A Review of Current Literature. Pharmacotherapy, 38(12), 1258–1266.

https://pubmed.ncbi.nlm.nih.gov/30357869/
R7

Centers for Disease Control and Prevention (CDC). About Chronic Diseases. National Center for Chronic Disease Prevention and Health Promotion.

https://www.cdc.gov/chronic-disease/about/index.html
R8

Centers for Disease Control and Prevention (CDC). About Nutrition. Division of Nutrition, Physical Activity, and Obesity.

https://www.cdc.gov/nutrition/php/about/index.html
R9

Centers for Disease Control and Prevention (CDC). CDC's Second Nutrition Report: A Comprehensive Biochemical Assessment of the Nutrition Status of the U.S. Population.

https://www.cdc.gov/nutrition-report/index.html
R10

Centers for Disease Control and Prevention (CDC). Biomonitoring. National Center for Environmental Health.

https://www.cdc.gov/biomonitoring/index.html
R11

Centers for Disease Control and Prevention (CDC). National Report on Human Exposure to Environmental Chemicals: Frequently Asked Questions. National Center for Environmental Health.

https://www.cdc.gov/environmental-exposure-report/resources/frequently-asked-questions.html
R12

Centers for Disease Control and Prevention (CDC). National Report on Human Exposure to Environmental Chemicals. National Center for Environmental Health.

https://www.cdc.gov/exposurereport/index.html
R13

Chey WD, Hashash JG, Manning L, Chang L. AGA Clinical Practice Update on the Role of Diet in Irritable Bowel Syndrome: Expert Review. Gastroenterology. 2022;162(6):1737–1745.

https://www.gastrojournal.org/article/S0016-5085(21)04084-1/fulltext
R14

Choi HI. (2019). The Association between Mineral and Trace Element Analysis of Hair and Various Disorders. Biological Trace Element Research, 188(1), 1–10.

https://pubmed.ncbi.nlm.nih.gov/30421218/
R15

Dajti E, et al. (2023). Systematic Review With Meta-analysis: Diagnostic Performance of Fecal Calprotectin in Distinguishing Inflammatory Bowel Disease From Irritable Bowel Syndrome. Alimentary Pharmacology & Therapeutics, 58(10), 999–1011.

https://pubmed.ncbi.nlm.nih.gov/37608572/
R16

De Paolis E, et al. (2022). BRCA testing on buccal swab to improve access to healthcare and cancer prevention: a performance evaluation. International Journal of Gynecologic Cancer.

https://pubmed.ncbi.nlm.nih.gov/35264406/
R17

Eliassen AH, et al. (2012). Urinary estrogens and estrogen metabolites and subsequent risk of breast cancer among premenopausal women. Cancer Research, 72(3), 696–706.

https://pubmed.ncbi.nlm.nih.gov/22158945/
R18

Endocrine Society. (2024). Endocrine Treatment of Gender-Dysphoric/Gender-Incongruent Persons: Clinical Practice Guideline. Journal of Clinical Endocrinology & Metabolism.

https://academic.oup.com/jcem/article/109/8/1987/7641998
R19

Ferwana M, et al. (2015). Accuracy of urea breath test in Helicobacter pylori infection: Meta-analysis. World Journal of Gastroenterology, 21(4), 1305–1314.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306175/
R20

Flynn MF, Kelly M & Dooley JSG. (2021). Nasopharyngeal swabs vs. nasal aspirates for respiratory virus detection: a systematic review. Pathogens.

https://pubmed.ncbi.nlm.nih.gov/34959567/
R21

Ghoshal UC, Shukla R & Ghoshal U. (2017). Small Intestinal Bacterial Overgrowth and Irritable Bowel Syndrome: A Bridge between Functional Organic Dichotomy. Gut and Liver, 11(2), 196–208.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5347643/
R22

Gisbert JP, et al. (2006). Accuracy of Monoclonal Stool Antigen Test for the Diagnosis of H. pylori Infection: A Systematic Review and Meta-analysis. American Journal of Gastroenterology, 101(6), 1339–1349.

https://pubmed.ncbi.nlm.nih.gov/16771955/
R23

Holroyd TA, et al. (2022). Diagnostic accuracy of dried blood spots for serology of vaccine-preventable diseases: a systematic review. Expert Review of Vaccines, 21(1), 125–138.

https://pubmed.ncbi.nlm.nih.gov/34818947/
R24

Hu FB, et al. (2004). Inflammatory markers and risk of developing type 2 diabetes in women. Diabetes, 53(3), 693–702.

https://pubmed.ncbi.nlm.nih.gov/14988254/
R25

Lacy BE, Pimentel M, Brenner DM, et al. ACG Clinical Guideline: Management of Irritable Bowel Syndrome. Am J Gastroenterol. 2021;116(1):17–44.

https://journals.lww.com/ajg/fulltext/2021/01000/acg_clinical_guideline__management_of_irritable.11.aspx
R26

Lehmann S, et al. (2013). Current and future use of 'dried blood spot' analyses in clinical chemistry. Clinical Chemistry and Laboratory Medicine, 51(5), 969–983.

https://pubmed.ncbi.nlm.nih.gov/23449525/
R27

Liu KYP, et al. (2025). Oral Microbiome in Oral Cancer Research from Sampling to Analysis: Strategies, Challenges, and Recommendations. Cancers, 18(1), 145.

https://www.mdpi.com/2072-6694/18/1/145
R28

Livy A, et al. (2011). Evaluation of Quality of DNA Extracted from Buccal Swabs for Microarray Based Genotyping. Journal of Biomedicine and Biotechnology, 2011, 1–7.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170745/
R29

Lord RS, Bongiovanni B & Bralley JA. (2002). Estrogen metabolism and the diet-cancer connection: rationale for assessing the ratio of urinary hydroxylated estrogen metabolites. Alternative Medicine Review, 7(2), 112–129.

https://pubmed.ncbi.nlm.nih.gov/11991791/
R30

Mayo Clinic. Food allergy vs. food intolerance: What's the difference? Mayo Clinic.

https://www.mayoclinic.org/diseases-conditions/food-allergy/expert-answers/food-allergy/faq-20058538
R31

Mosli MH, et al. (2015). C-reactive Protein, Fecal Calprotectin, and Stool Lactoferrin for Detection of Endoscopic Activity in Symptomatic Inflammatory Bowel Disease. American Journal of Gastroenterology, 110(6), 802–812.

https://pubmed.ncbi.nlm.nih.gov/25964225/
R32

Myers GL, et al. (2004). CDC/AHA Workshop on Markers of Inflammation and Cardiovascular Disease: Application to Clinical and Public Health Practice. Circulation, 110(25), e545–e549.

https://pubmed.ncbi.nlm.nih.gov/15611379/
R33

Namkoong S. (2013). Reliability on Intra-Laboratory and Inter-Laboratory Data of Hair Tissue Mineral Analysis. Biological Trace Element Research, 153(1–3), 1–8.

https://pubmed.ncbi.nlm.nih.gov/23625669/
R34

National Center for Complementary and Integrative Health (NCCIH). Whole Person Health: What You Need To Know. U.S. Department of Health and Human Services.

https://www.nccih.nih.gov/health/whole-person-health-what-you-need-to-know
R35

National Center for Complementary and Integrative Health (NCCIH). Naturopathy. U.S. Department of Health and Human Services.

https://www.nccih.nih.gov/health/naturopathy
R36

National Center for Complementary and Integrative Health (NCCIH). Chiropractic: In Depth. U.S. Department of Health and Human Services.

https://www.nccih.nih.gov/health/chiropractic-in-depth
R37

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Celiac Disease. National Institutes of Health.

https://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease
R38

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Lactose Intolerance. National Institutes of Health.

https://www.niddk.nih.gov/health-information/digestive-diseases/lactose-intolerance
R39

National Institutes of Health (NIH). Office of Dietary Supplements. Nutrient Recommendations: Dietary Reference Intakes (DRI). NIH.

https://ods.od.nih.gov/HealthInformation/Dietary_Reference_Intakes.aspx
R40

National Health Service (NHS). Food intolerance. NHS.

https://www.nhs.uk/conditions/food-intolerance/
R41

Newman M & Curran DA. (2021). Reliability of a dried urine test for comprehensive assessment of urine hormones and metabolites. BMC Chemistry, 15(1), 18.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8063368/
R42

Newman M, Pratt SM, Curran DA & Stanczyk FZ. (2019). Evaluating urinary estrogen and progesterone metabolites using dried filter paper samples and GC-MS/MS. BMC Chemistry, 13(1), 20.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387568/
R43

Obeagu EI. (2026). Inflammatory markers and diabetes mellitus pathogenesis. PMC, 12851792.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12851792/
R44

Ostler MW, et al. (2014). Dried Blood Spot Collection of Health Biomarkers to Maximize Participation in Population Studies. Journal of Visualized Experiments, (90), e51779.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4216099/
R45

Palmqvist S, et al. (2024). Blood biomarker-based diagnosis of Alzheimer's disease using dried blood spots. JAMA Neurology.

https://pubmed.ncbi.nlm.nih.gov/38407899/
R46

Papp JR, et al. (2024). CDC laboratory recommendations for syphilis testing, United States, 2024. MMWR Recommendations and Reports, 73(1), 1–40.

https://www.cdc.gov/mmwr/volumes/73/rr/rr7301a1.htm
R47

Parente DM, Cunha CB & Mylonakis E. (2018). The Clinical Utility of Methicillin-Resistant Staphylococcus aureus (MRSA) Nasal Screening to Rule Out MRSA Pneumonia: A Diagnostic Meta-analysis. Clinical Infectious Diseases.

https://pubmed.ncbi.nlm.nih.gov/29020254/
R48

Pimentel M, Saad RJ, Long MD & Rao SSC. (2020). ACG Clinical Guideline: Small Intestinal Bacterial Overgrowth. The American Journal of Gastroenterology, 115(2), 165–178.

https://pubmed.ncbi.nlm.nih.gov/32022728/
R49

Reider CA, Chung RY, Devarshi PP, et al. Inadequacy of Immune Health Nutrients: Intakes in US Adults, the 2005–2016 NHANES. Nutrients. 2020;12(6):1735.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352522/
R50

Rezaie A, et al. (2017). Hydrogen and Methane-Based Breath Testing in Gastrointestinal Disorders: The North American Consensus. The American Journal of Gastroenterology, 112(5), 775–784.

https://pubmed.ncbi.nlm.nih.gov/28323273/
R51

Schmidt MI, et al. (1999). Markers of inflammation and prediction of diabetes mellitus in adults (Atherosclerosis Risk in Communities study). The Lancet, 353(9148), 1649–1652.

https://pubmed.ncbi.nlm.nih.gov/10335783/
R52

Seidel S, et al. (2001). Assessment of commercial laboratories performing hair mineral analysis. JAMA, 285(1), 67–72.

https://pubmed.ncbi.nlm.nih.gov/11150111/
R53

Shah ED, et al. (2010). Abnormal breath testing in IBS: a meta-analysis. Digestive Diseases and Sciences, 55(9), 2441–2449.

https://pubmed.ncbi.nlm.nih.gov/19997980/
R54

Shahverdian A. (2025). Comparison of Mineral Levels in Blood and Hair Samples of Healthy Adults: Evaluating the Clinical Utility of Hair Mineral Analysis. Biological Trace Element Research.

https://pubmed.ncbi.nlm.nih.gov/39779619/
R55

Silva Luz B, et al. (2025). Stool Antigen Test for Helicobacter pylori Infection in Adults: A Meta-analysis of Diagnostic Test Accuracy. Journal of Clinical Gastroenterology, 59(1), 58–66.

https://pubmed.ncbi.nlm.nih.gov/38652572/
R56

Smit PW, et al. (2014). An Overview of the Clinical Use of Filter Paper in the Diagnosis of Infectious Diseases. PLoS Neglected Tropical Diseases, 8(2), e2623.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930500/
R57

Tan XL. (2024). The nasal microbiota is a potential diagnostic biomarker for deep pulmonary infection. PMC.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11540870/
R58

U.S. National Library of Medicine (MedlinePlus). Malabsorption Syndromes. National Institutes of Health.

https://medlineplus.gov/malabsorptionsyndromes.html
R59

U.S. Environmental Protection Agency (EPA). Mercury. EPA.

https://www.epa.gov/mercury
R60

U.S. Department of Agriculture (USDA) and U.S. Department of Health and Human Services. Dietary Guidelines for Americans, 2020–2025. 9th Edition.

https://www.dietaryguidelines.gov/
R61

Valdes AM, et al. (2018). Role of the gut microbiota in nutrition and health. BMJ, 361, k2179.

https://www.bmj.com/content/361/bmj.k2179
R62

Vanga RR, et al. (2018). Diagnostic Performance of Measurement of Fecal Elastase-1 in Detection of Exocrine Pancreatic Insufficiency: Systematic Review and Meta-analysis. Clinical Gastroenterology and Hepatology, 16(11), 1734–1742.

https://pubmed.ncbi.nlm.nih.gov/29702261/
R63

Vojnov L, et al. (2022). The performance of using dried blood spot specimens for HIV-1 viral load testing: a systematic review and meta-analysis. PLoS Medicine, 19(8), e1004076.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9377603/
R64

Walker AH, et al. (1999). Collection of genomic DNA by buccal swabs for polymerase chain reaction-based biomarker assays. Environmental Health Perspectives, 107(10), 861–866.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1566682/
R65

World Health Organization (WHO). Micronutrients. Nutrition.

https://www.who.int/health-topics/micronutrients
R66

World Health Organization (WHO). Mercury and Health. WHO.

https://www.who.int/news-room/fact-sheets/detail/mercury-and-health
R67

World Health Organization (WHO). Lead Poisoning. WHO.

https://www.who.int/news-room/fact-sheets/detail/lead-poisoning-and-health
R68

Xiao Y, Sun C & Leung EKY. (2025). Urine Organic Acid Testing in the Clinical Laboratory: The Past, Current, and Future. Encyclopedia, 5(3), 153.

https://www.mdpi.com/2673-8392/5/3/153
R69

Zaura E, et al. (2021). Optimizing the quality of clinical studies on oral microbiome: A practical guide for planning, performing, and reporting. Periodontology 2000, 87(1), 10–24.

https://pubmed.ncbi.nlm.nih.gov/34463990/
oliver-2025-categorizing

Oliver L, Malagón M, Ramió-Pujol S, et al. (2025). "Categorizing and characterizing intestinal dysbiosis: evaluating stool microbial test clinical utility." *Frontiers in Microbiomes*, 4. [https://doi.org/10.3389/frmbi.2025.1512257](https://doi.org/10.3389/frmbi.2025.1512257) — Demonstrates the clinical utility of comprehensive stool microbial testing in characterizing dysbiosis patterns across gastrointestinal conditions.

https://doi.org/10.3389/frmbi.2025.1512257
damhorst-2020-current

Damhorst GL, Adelman MW, Woodworth MH, Kraft CS. (2020). "Current Capabilities of Gut Microbiome-Based Diagnostics and the Promise of Clinical Application." *The Journal of Infectious Diseases*, 223(Suppl 3), S270-S275. [https://doi.org/10.1093/infdis/jiaa689](https://doi.org/10.1093/infdis/jiaa689) — Reviews the diagnostic capabilities of gut microbiome testing, including pathogen detection and antibiotic resistance gene identification.

https://doi.org/10.1093/infdis/jiaa689
american-2024-monograph

American College of Gastroenterology. (2024). "ACG Monograph on Microbiome Therapeutics." *The American Journal of Gastroenterology*, 119(1S). [https://doi.org/10.14309/ajg.0000000000002610](https://doi.org/10.14309/ajg.0000000000002610) — Authoritative clinical guideline on the role of microbiome assessment and therapeutics in gastroenterology practice.

https://doi.org/10.14309/ajg.0000000000002610
international-2024-statement

International consensus statement on microbiome testing in clinical practice. (2024). *The Lancet Gastroenterology and Hepatology*. [https://www.thelancet.com/journals/langas/article/PIIS2468-1253(24)00311-X/abstract](https://www.thelancet.com/journals/langas/article/PIIS2468-1253(24)00311-X/abstract) — Establishes international consensus on the appropriate use, interpretation, and limitations of clinical microbiome testing.

https://www.thelancet.com/journals/langas/article/PIIS2468-1253(24
quigley-2013-bacteria

Quigley EMM. (2013). "Gut bacteria in health and disease." *Gastroenterology and Hepatology*, 9(9), 560-569. [https://pmc.ncbi.nlm.nih.gov/articles/PMC3983973/](https://pmc.ncbi.nlm.nih.gov/articles/PMC3983973/) — Foundational review of the gut microbiome's role in health and its disruption in gastrointestinal and systemic disease.

https://pmc.ncbi.nlm.nih.gov/articles/PMC3983973/
keevil-2013-novel

Keevil BG. (2013). "Novel liquid chromatography tandem mass spectrometry (LC-MS/MS) methods for measuring steroids in clinical samples." *Journal of Steroid Biochemistry and Molecular Biology*, 136, 151-159. [https://doi.org/10.1016/j.jsbmb.2012.09.007](https://doi.org/10.1016/j.jsbmb.2012.09.007) — Establishes the analytical superiority of LC-MS/MS for steroid hormone metabolite measurement in urine.

https://doi.org/10.1016/j.jsbmb.2012.09.007
bradlow-1996-hydroxyestrone

Bradlow HL, Telang NT, Sepkovic DW, Osborne MP. (1996). "2-Hydroxyestrone: the 'good' estrogen." *Journal of Endocrinology*, 150 Suppl, S259-265. [https://doi.org/10.1677/joe.0.150s259](https://doi.org/10.1677/joe.0.150s259) — Foundational study establishing the clinical significance of estrogen hydroxylation ratios in cancer risk assessment.

https://doi.org/10.1677/joe.0.150s259
hankinson-1994-urinary

Hankinson SE, et al. (1994). "Urinary estrogen metabolites and breast cancer risk." *Journal of the National Cancer Institute*, 86(22), 1677-1682. [https://doi.org/10.1093/jnci/86.22.1677](https://doi.org/10.1093/jnci/86.22.1677) — Epidemiological evidence linking urinary estrogen metabolite profiles to breast cancer risk.

https://doi.org/10.1093/jnci/86.22.1677
shaw-2010-increased

Shaw W. (2010). "Increased urinary excretion of a 3-(3-hydroxyphenyl)-3-hydroxypropionic acid (HPHPA), an abnormal phenylalanine metabolite of *Clostridia* spp. in the gastrointestinal tract, in urine samples from patients with autism and schizophrenia." *Nutritional Neuroscience*, 13(3), 135-143. [https://doi.org/10.1179/147683010X12611460763968](https://doi.org/10.1179/147683010X12611460763968) — Demonstrates the clinical relevance of microbial organic acid markers in urine for neurological and psychiatric conditions.

https://doi.org/10.1179/147683010X12611460763968
xiao-2025-urine

Xiao Y, Sun C, Leung EKY. (2025). "Urine Organic Acid Testing in the Clinical Laboratory: The Past, Current, and Future." *Encyclopedia*, 5(3), 153. [https://doi.org/10.3390/encyclopedia5030153](https://doi.org/10.3390/encyclopedia5030153) — Comprehensive review of organic acid testing methodology, clinical applications, and future directions.

https://doi.org/10.3390/encyclopedia5030153
alpert-2004-health

Alpert JP, Greiner KA, Hall S. (2004). "Health fair screening: The clinical utility of the comprehensive metabolic profile." *Family Medicine*, 36(7), 514-519. [https://pubmed.ncbi.nlm.nih.gov/15243834/](https://pubmed.ncbi.nlm.nih.gov/15243834/) — Demonstrates the value of CMP screening in identifying previously undetected metabolic conditions in community settings.

https://pubmed.ncbi.nlm.nih.gov/15243834/
seo-2022-usefulness

Seo IH. (2022). "Usefulness of Complete Blood Count (CBC) to Assess Acute or Chronic Infections, Leukemia, Anemia, and Liver Disease." *Journal of Clinical Medicine*, 11(22), 6870. [https://pmc.ncbi.nlm.nih.gov/articles/PMC9687310/](https://pmc.ncbi.nlm.nih.gov/articles/PMC9687310/) — Comprehensive review of the diagnostic utility of CBC parameters across a range of clinical conditions.

https://pmc.ncbi.nlm.nih.gov/articles/PMC9687310/
ridker-2002-comparison

Ridker PM, et al. (2002). "Comparison of C-Reactive Protein and Low-Density Lipoprotein Cholesterol Levels in the Prediction of First Cardiovascular Events." *New England Journal of Medicine*, 347(20), 1557-1565. [https://doi.org/10.1056/NEJMoa021993](https://doi.org/10.1056/NEJMoa021993) — Landmark study establishing hsCRP as an independent cardiovascular risk predictor, supporting its inclusion in preventive health panels.

https://doi.org/10.1056/NEJMoa021993
monastero-2017-cytokines

Monastero RN, Pentyala SN. (2017). "Cytokines as biomarkers and their respective clinical cutoff levels." *International Journal of Inflammation*, 2017. [https://pmc.ncbi.nlm.nih.gov/articles/PMC5401738/](https://pmc.ncbi.nlm.nih.gov/articles/PMC5401738/) — Reviews the clinical significance of cytokine panels and their diagnostic thresholds in inflammatory and autoimmune conditions.

https://pmc.ncbi.nlm.nih.gov/articles/PMC5401738/
smellie-2007-pitfalls

Smellie WSA. (2007). "Pitfalls and summary of guidance on sex hormone testing." *Journal of Clinical Pathology*, 60(12), 1297-1302. [https://pmc.ncbi.nlm.nih.gov/articles/PMC1767292/](https://pmc.ncbi.nlm.nih.gov/articles/PMC1767292/) — Provides evidence-based guidance on the appropriate use and interpretation of sex hormone panels in clinical practice.

https://pmc.ncbi.nlm.nih.gov/articles/PMC1767292/
malsagova-2020-dried

Malsagova K, Kopylov A, Stepanov A, et al. (2020). "Dried Blood Spot in Laboratory: Directions and Prospects." *Diagnostics*, 10(4), 248. [https://doi.org/10.3390/diagnostics10040248](https://doi.org/10.3390/diagnostics10040248) — Comprehensive review of DBS technology, analytical methods, and clinical applications across multiple analyte classes.

https://doi.org/10.3390/diagnostics10040248
kemper-2017-newborn

Kemper AR, Brosco J, Comeau AM, et al. (2017). "Newborn screening for X-linked adrenoleukodystrophy: Evidence summary and advisory committee recommendation." *Genetics in Medicine*, 19(1), 121-126. [https://doi.org/10.1038/gim.2016.82](https://doi.org/10.1038/gim.2016.82) — Evidence review supporting DBS-based newborn screening for a serious metabolic condition, demonstrating the clinical impact of early DBS detection.

https://doi.org/10.1038/gim.2016.82
brindle-2019-measurement

Brindle E, et al. (2019). "Measurement of micronutrient deficiency associated biomarkers in dried blood spots." *Journal of Nutrition*, 149(1), 163-170. [https://pmc.ncbi.nlm.nih.gov/articles/PMC6324783/](https://pmc.ncbi.nlm.nih.gov/articles/PMC6324783/) — Validates DBS methodology for micronutrient deficiency assessment, including vitamins and minerals relevant to population screening.

https://pmc.ncbi.nlm.nih.gov/articles/PMC6324783/
harris-2004-omega

Harris WS, et al. (2004). "Omega-3 fatty acids and coronary heart disease risk: clinical and mechanistic perspectives." *Atherosclerosis*, 197(1), 12-24. [https://doi.org/10.1016/j.atherosclerosis.2007.11.008](https://doi.org/10.1016/j.atherosclerosis.2007.11.008) — Establishes the omega-3 index as a clinically meaningful cardiovascular risk biomarker measurable via DBS.

https://doi.org/10.1016/j.atherosclerosis.2007.11.008
zimmermann-2003-development

Zimmermann M, Moretti D, Chaouki N, Torresani T. (2003). "Development of a Dried Whole-Blood Spot Thyroglobulin Assay and Its Evaluation as an Indicator of Thyroid Status in Goitrous Children." *American Journal of Clinical Nutrition*, 77(6), 1453-1458. [https://pubmed.ncbi.nlm.nih.gov/12791619/](https://pubmed.ncbi.nlm.nih.gov/12791619/) — Validates DBS thyroglobulin measurement as an indicator of iodine status and thyroid health.

https://pubmed.ncbi.nlm.nih.gov/12791619/
florou-2025-human

Florou VA, et al. (2025). "Human hair as a diagnostic tool in medicine." *Journal of Trace Elements in Medicine and Biology*, 70, 102904. [https://pmc.ncbi.nlm.nih.gov/articles/PMC12272604/](https://pmc.ncbi.nlm.nih.gov/articles/PMC12272604/) — Comprehensive review of hair as a biological matrix for medical diagnostics, including mineral and toxic element assessment.

https://pmc.ncbi.nlm.nih.gov/articles/PMC12272604/
shahverdian-2025-evaluating

Shahverdian A. (2025). "Evaluating the Clinical Utility of Hair Mineral Analysis." *Biological Trace Element Research*. [https://link.springer.com/article/10.1007/s12011-025-04793-w](https://link.springer.com/article/10.1007/s12011-025-04793-w) — Recent evaluation of the clinical utility and limitations of HTMA in practice.

https://link.springer.com/article/10.1007/s12011-025-04793-w
namkoong-2013-reliability

Namkoong S, et al. (2013). "Reliability on Intra-Laboratory and Inter-Laboratory Data of Hair Mineral Analysis." *Biological Trace Element Research*, 151(3), 395-400. [https://pmc.ncbi.nlm.nih.gov/articles/PMC3582931/](https://pmc.ncbi.nlm.nih.gov/articles/PMC3582931/) — Examines the reproducibility and reliability of HTMA data across laboratory settings, informing appropriate clinical use.

https://pmc.ncbi.nlm.nih.gov/articles/PMC3582931/
agency-2020-stances

Agency for Toxic Substances and Disease Registry (ATSDR). (2020). *Toxicological Profile for Lead.* U.S. Department of Health and Human Services. [https://www.atsdr.cdc.gov/toxprofiles/tp13.pdf](https://www.atsdr.cdc.gov/toxprofiles/tp13.pdf) — Authoritative government reference on lead toxicity, exposure pathways, and biomonitoring methods including hair analysis.

https://www.atsdr.cdc.gov/toxprofiles/tp13.pdf
world-2021-poisoning

World Health Organization (WHO). (2021). "Lead poisoning." [https://www.who.int/news-room/fact-sheets/detail/lead-poisoning-and-health](https://www.who.int/news-room/fact-sheets/detail/lead-poisoning-and-health) — WHO guidance on lead exposure, health effects, and the importance of biomonitoring in at-risk populations.

https://www.who.int/news-room/fact-sheets/detail/lead-poisoning-and-health
de-2022-testing

De Paolis E, et al. (2022). "BRCA testing on buccal swab to improve access to healthcare and cancer prevention: a performance evaluation." *European Journal of Cancer Prevention*. [https://www.sciencedirect.com/science/article/pii/S1048891X24007199](https://www.sciencedirect.com/science/article/pii/S1048891X24007199) — Validates buccal swab DNA quality for BRCA next-generation sequencing, demonstrating performance equivalent to blood-based collection.

https://www.sciencedirect.com/science/article/pii/S1048891X24007199
ang-2018-evaluation

Ang JS, et al. (2018). "Evaluation of buccal swabs for pharmacogenetics." *Pharmacogenomics*, 19(10), 837-846. [https://pmc.ncbi.nlm.nih.gov/articles/PMC6000964/](https://pmc.ncbi.nlm.nih.gov/articles/PMC6000964/) — Evaluates buccal swab DNA yield and quality for pharmacogenetic testing applications.

https://pmc.ncbi.nlm.nih.gov/articles/PMC6000964/
mulot-2005-collection

Mulot C, et al. (2005). "Collection of Human Genomic DNA From Buccal Cells for Genetic Testing and Population Studies." *Journal of Biomedicine and Biotechnology*, 2005(2), 115-120. [https://pmc.ncbi.nlm.nih.gov/articles/PMC1224694/](https://pmc.ncbi.nlm.nih.gov/articles/PMC1224694/) — Demonstrates the suitability of buccal cell DNA for genetic testing and population-level genomic studies.

https://pmc.ncbi.nlm.nih.gov/articles/PMC1224694/
evaluation-2017-samples

Evaluation of Buccal Cell Samples for Studies of Oral Microbiota. (2017). *Cancer Epidemiology, Biomarkers and Prevention*, 26(2), 249-257. [https://aacrjournals.org/cebp/article/26/2/249/71202](https://aacrjournals.org/cebp/article/26/2/249/71202) — Demonstrates that stored buccal cell samples are a viable resource for oral microbiome research and microbial-disease association studies.

https://aacrjournals.org/cebp/article/26/2/249/71202
livy-2011-evaluation

Livy A, et al. (2011). "Evaluation of Quality of DNA Extracted from Buccal Swabs for Microarray-Based Genotyping." *Journal of Biomedicine and Biotechnology*, 2011. [https://pmc.ncbi.nlm.nih.gov/articles/PMC3286590/](https://pmc.ncbi.nlm.nih.gov/articles/PMC3286590/) — Assesses DNA quality from buccal swabs for high-throughput genotyping applications, supporting their use in large-scale genetic studies.

https://pmc.ncbi.nlm.nih.gov/articles/PMC3286590/
centers-2024-interim

Centers for Disease Control and Prevention (CDC). (2024). "Interim Guidelines for Collecting and Handling of Clinical Specimens for COVID-19 Testing." [https://www.cdc.gov/covid/hcp/clinical-care/clinical-specimen-guidelines.html](https://www.cdc.gov/covid/hcp/clinical-care/clinical-specimen-guidelines.html) — Authoritative CDC guidance on nasal swab collection methods, specimen handling, and testing protocols for SARS-CoV-2.

https://www.cdc.gov/covid/hcp/clinical-care/clinical-specimen-guidelines.html
lovison-2025-unveiling

Lovison OVA, Barth AL, Martins AF, et al. (2025). "Unveiling the role of the upper respiratory tract microbiome in susceptibility and severity to COVID-19." *Frontiers in Cellular and Infection Microbiology*, 15. [https://doi.org/10.3389/fcimb.2025.1531084](https://doi.org/10.3389/fcimb.2025.1531084) — Demonstrates the association between upper respiratory microbiome composition and COVID-19 susceptibility and severity.

https://doi.org/10.3389/fcimb.2025.1531084
centers-2025-clinical

Centers for Disease Control and Prevention (CDC). (2025). "Clinical Guidance for Group A Streptococcal Pharyngitis." [https://www.cdc.gov/group-a-strep/hcp/clinical-guidance/strep-throat.html](https://www.cdc.gov/group-a-strep/hcp/clinical-guidance/strep-throat.html) — CDC clinical guidance on the use of rapid antigen detection tests and throat cultures for GAS pharyngitis diagnosis and management.

https://www.cdc.gov/group-a-strep/hcp/clinical-guidance/strep-throat.html
alrashed-2026-clinical

Alrashed F, Alsaadoon E, Alosaimi A, et al. (2026). "The clinical utility of nasal MRSA PCR as an antimicrobial stewardship tool to guide MRSA bacteraemia therapy in paediatrics." *JAC-Antimicrobial Resistance*, 8(1), dlag012. [https://doi.org/10.1093/jacamr/dlag012](https://doi.org/10.1093/jacamr/dlag012) — Demonstrates the clinical utility of nasal MRSA PCR in guiding antibiotic stewardship decisions.

https://doi.org/10.1093/jacamr/dlag012
chow-2012-clinical

Chow AW, Benninger MS, Brook I, et al. (2012). "IDSA Clinical Practice Guideline for Acute Bacterial Rhinosinusitis in Children and Adults." *Clinical Infectious Diseases*, 54(8), e72-e112. [https://doi.org/10.1093/cid/cis370](https://doi.org/10.1093/cid/cis370) — Infectious Diseases Society of America guideline on the diagnosis and management of acute bacterial rhinosinusitis, including the role of nasal culture.

https://doi.org/10.1093/cid/cis370
pimentel-2020-clinical

Pimentel M, Saad RJ, Long MD, Rao SSC. (2020). "ACG Clinical Guideline: Small Intestinal Bacterial Overgrowth." *The American Journal of Gastroenterology*, 115(2), 165-178. [https://doi.org/10.14309/ajg.0000000000000501](https://doi.org/10.14309/ajg.0000000000000501) — Authoritative American College of Gastroenterology guideline on the diagnosis and management of SIBO, including breath test protocols and interpretation criteria.

https://doi.org/10.14309/ajg.0000000000000501
quigley-2020-clinical

Quigley EMM, Murray JA, Pimentel M. (2020). "AGA Clinical Practice Update on Small Intestinal Bacterial Overgrowth: Expert Review." *Gastroenterology*, 159(4), 1526-1532. [https://doi.org/10.1053/j.gastro.2020.06.090](https://doi.org/10.1053/j.gastro.2020.06.090) — American Gastroenterological Association expert review updating clinical guidance on SIBO diagnosis and the role of breath testing.

https://doi.org/10.1053/j.gastro.2020.06.090
sankararaman-2024-breath

Sankararaman S, Aziz M. (2024). "Urea Breath Test." In *StatPearls*. StatPearls Publishing. [https://www.ncbi.nlm.nih.gov/books/NBK542286/](https://www.ncbi.nlm.nih.gov/books/NBK542286/) — Comprehensive clinical reference on the H. pylori urea breath test, including methodology, interpretation, and clinical applications.

https://www.ncbi.nlm.nih.gov/books/NBK542286/
harvie-2019-evaluation

Harvie RM, Chami J. (2019). "Evaluation of lactulose, lactose, and fructose breath testing in patients with irritable bowel syndrome." *Journal of Clinical Gastroenterology*, 53(7), 508-514. [https://pmc.ncbi.nlm.nih.gov/articles/PMC7144793/](https://pmc.ncbi.nlm.nih.gov/articles/PMC7144793/) — Evaluates the clinical utility of carbohydrate breath testing in IBS patients, supporting its role in identifying actionable dietary intolerances.

https://pmc.ncbi.nlm.nih.gov/articles/PMC7144793/
hammer-2025-comparative

Hammer K, et al. (2025). "Comparative analysis of hydrogen breath test devices for carbohydrate malabsorption." *Journal of Clinical Gastroenterology*, 59(3), 250-256. [https://pubmed.ncbi.nlm.nih.gov/40359280/](https://pubmed.ncbi.nlm.nih.gov/40359280/) — Comparative evaluation of breath testing device performance for carbohydrate malabsorption, informing best practices in clinical testing.

https://pubmed.ncbi.nlm.nih.gov/40359280/

Citation Note: References are provided to support provider education and clinical reasoning. Jaelion does not claim that any specific test will produce a specific clinical outcome. All testing should be interpreted within the broader clinical picture by a qualified provider.

Last Reviewed: April 2026