Healthier World with Quest Diagnostics

Quest Diagnostics

Healthier World with Quest Diagnostics aims to prompt action from insight as we keep you up to date on current clinical and diagnostic topics to transform lives and illuminate a path to better health.

  1. Aug 24

    44 - Navigating the modern patient journey in HIV care (16 min)

    While HIV has transitioned from an acute, life-threatening infection to a highly manageable chronic condition, significant complexities in screening, prevention, and long-term care remain. In this episode, Maeson Latsko, PhD, discusses the dramatic evolution of HIV care with Dr Ann MacIntyre, DO, a board-certified infectious disease physician and Senior Medical Director of Infectious Disease at Quest Diagnostics. They explore the cellular mechanisms of HIV, the timeline of diagnostic markers in the blood, the vital role of PrEP and baseline testing, and the clinical shift toward holistic, longitudinal care for patients aging with the virus. This episode will Explain the cellular mechanism of HIV infection and map the clinical timeline of diagnostic markers in the blood, including viral RNA, p24 antigen, and antibodies (3:30) Differentiate between historic and modern HIV testing methodologies, highlighting how the fourth-generation antigen/antibody combo assay addresses the critical window period (6:00) Outline the comprehensive laboratory testing required for safe PrEP initiation, including screening for co-infections like Hepatitis B and monitoring metabolic markers (8:00) Analyze clinical strategies for staging newly diagnosed patients and managing long-term viral suppression, addressing the complex systemic impacts of chronic inflammation on aging patients (13:30)   Speakers: Dr Ann MacIntyre, DO; Maeson Latsko, PhD Contributors: Maeson Latsko, PhD; Dr Ann MacIntyre, DO; Katherine Watson; Trisha Winchester, PhD; Frank Samarro   Ordering information HIV-1/2 Antigen and Antibodies, Fourth Generation, with Reflexes | Test Detail | Quest Diagnostics HIV-1/2 Antigen and Antibodies, Fourth Generation, with Reflexes | Test Detail | Quest Diagnostics HIV-1 RNA, Quantitative, Real-Time PCR | Test Detail | Quest Diagnostics HIV-1 RNA, Quantitative, Real-Time PCR | Test Detail | Quest Diagnostics HIV-1 RNA, Quantitative, PCR with Reflex to Genotype | Test Detail | Quest Diagnostics HIV-1 RNA, Quantitative, PCR with Reflex to Genotype | Test Detail | Quest Diagnostics   Additional resources Clinical Education Center | Quest Diagnostics Clinical Education Center | Quest Diagnostics HIV testing | Quest Diagnostics HIV testing | Quest Diagnostics   References US Preventive Services Task Force. Screening for HIV Infection: US Preventive Services Task Force Recommendation Statement. JAMA. 2019;321(23):2326-2337. doi:10.1001/jama.2019.6587 Centers for Disease Control and Prevention and Association of Public Health Laboratories. Laboratory Testing for the Diagnosis of HIV Infection: Updated Recommendations. CDC. 2014. CDC. HIV treatment and care. Updated April 16, 2026.  Accessed August 6, 2026. https://www.cdc.gov/hiv/clinicians/treatment-care/index.htmlClinical Care of HIV | HIV Nexus | CDC CDC. Clinical Guidance for PrEP | HIV Nexus | CDC. Updated April 30, 2026. Accessed August 6, 2026. Panel on Antiretroviral Guidelines for Adults and Adolescents. Guidelines for the Use of Antiretroviral Agents in Adults and Adolescents with HIV. Department of Health and Human Services. Updated May 27, 2026. Available at https://clinicalinfo.hiv.gov/en/guidelines/adult-and-adolescent-arv. Accessed August 6, 2026.

  2. Aug 3

    43 - Empowering patients through HPV self-collection (22 min)

    Despite cervical cancer being one of the most preventable cancers, significant gaps in screening still leave many people vulnerable. But what if the screening process could be brought directly to the patient on their own terms? In this episode, Maeson Latsko, PhD, discusses the ongoing evolution of cervical cancer screening with Quest Diagnostics experts Megan Starolis, MS, PhD, HCLD(ABB), a Senior Scientific Director in Infectious Disease, and Damian Alagia, MD, MS, MBA, the Senior Medical Director for Advanced Diagnostics in Women's Health. They explore the science behind HPV DNA and mRNA testing, the clinical considerations for different screening algorithms, and the revolutionary potential of patient self-collection to improve health equity and save lives. This episode will Trace the evolution of cervical cancer screening from the Pap smear to modern molecular testing and self-collection, and recognize its potential to improve access to care (3:00) Differentiate between HPV DNA and mRNA testing methodologies and analyze the clinical benefits and considerations for primary screening vs co-testing algorithms (5:00) Explore how HPV self-collection can break down barriers to care for underserved populations and improve health equity (11:00) Recognize the critical importance of ensuring appropriate patient follow-up to complete the care continuum after a positive self-collected test (16:40) Speakers: Dr Megan Starolis, MS, PhD, HCLD(ABB); Dr Damian Alagia, MD, MS, MBA; Maeson Latsko, PhD Contributors: Maeson Latsko, PhD; Dr Megan Starolis, MS, PhD, HCLD(ABB); Dr Damian Alagia, MD, MS, MBA   Ordering information HPV Self-Collection HPV DNA (16, 18, Other High Risk), PCR, Vaginal Self-Collected | Test Detail | Quest Diagnostics     Additional resources Clinical Education Center | Quest Diagnostics Instant insights: HPV testing for cervical cancer screening| Healthier World with Quest Diagnostics Bringing cervical cancer screening closer to patients | Quest Diagnostics     Reference List Screening for Cervical Cancer. Obstetrics & Gynecology. 2026;148(1):e63-e67. doi:10.1097/AOG.0000000000006257

  3. Jul 27

    42 - Primary aldosteronism insights from a nephrologist (18 min)

    Up to 30% of hypertensive patients in specialty care settings may have underlying Primary Aldosteronism (PA), yet a massive diagnostic gap still exists in screening for PA. In this episode, Maeson Latsko, PhD, and Jeffrey Hymes, MD, discuss the critical intersection of resistant hypertension, chronic kidney disease (CKD), and PA. They shed light on the direct, blood-pressure-independent toxicity of excess aldosterone on the kidneys and unpack the latest clinical guidelines from the AHA/ACC and Endocrine Society. They also review a guideline-based algorithm designed to streamline screening and follow-up for PA evaluation. This episode will Explore the bidirectional relationship between chronic kidney disease (CKD) and hypertension, recognizing Primary Aldosteronism (PA) as a highly prevalent underlying cause (4:25) Detail the direct toxicities of excess aldosterone, independent of systemic blood pressure (8:50) Review updated clinical guidelines and a practical diagnostic algorithm to screen, triage, and manage PA patients (12:45)   Ordering information Kidney Profile Kidney Profile with reflex to eGFR (Creatinine-Cystatin C) Kidney Profile with eGFR (Creatinine-Cystatin C) eGFR (Creatinine-Cystatin C) Plasma Renin Activity with Reflex to Aldosterone     Additional resources Clinical Education Center | Quest Diagnostics Interpretation of Plasma Renin Activity With Reflex to Aldosterone Test (test code 13817) | Algorithm | Quest Diagnostics Primary aldosteronism algorithm brochure Quest Diagnostics nephrology brochure Primary aldosterone landing page Hypertension insights landing page     Reference List Whelton PK, Carey RM, Aronow WS, et al. 2025 ACC/AHA/AAPA/ABC/ACPM/AGS/APhA/ASH/ASPC/NMA/PCNA guideline for the prevention, detection, evaluation, and management of high blood pressure in adults: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Hypertension. 2025;85(4):e123-e145. Funder JW, Carey RM, Mantero F, et al. The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2016;101(5):1889-1916. doi:10.1210/jc.2015-4061 Adler GK, Stowasser M, Correa RR, et al. Primary Aldosteronism: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2025;110(9):2453-2495. doi:10.1210/clinem/dgaf284 Brown JM, Siddiqui M, Calhoun DA, et al. The unrecognized prevalence of primary aldosteronism: a cross-sectional study. Ann Intern Med. 2020;173(1):10-20. doi:10.7326/M20-0065 Centers for Disease Control and Prevention. Risk Factors for Chronic Kidney Disease. Centers for Disease Control and Prevention. Updated May 15, 2024. Accessed July 13, 2026. https://www.cdc.gov/kidney-disease/risk-factors/index.html

  4. Jul 13

    41 - Empowering primary care in the new era of Alzheimer’s disease diagnostics (25 min)

    For decades, assessing Alzheimer’s disease (AD) pathology required expensive PET scans or invasive lumbar punctures, creating significant diagnostic bottlenecks at the neurologist’s office. In this episode, Maeson Latsko, PhD and Dr. Matt Stroh, PhD explore how groundbreaking blood-based biomarkers are completely changing the landscape of brain health. The conversation highlights the recent FDA clearance of a p-tau181 triage test to help rule out AD, as well as the power of advanced multibiomarker models. By combining plasma Aβ42/40 ratio and p-tau217, clinicians can now accurately predict amyloid PET positivity. Adding APOE4 allele count significantly reduces indeterminate results. This episode breaks down how these accessible tools are empowering primary care providers (PCPs) to confidently triage mild cognitive impairment (MCI), explore secondary causes of impairment, and streamline patient care well before a specialty referral is made. This episode will Introduce the shifting clinical landscape of Alzheimer's care, including the role of recently FDA-cleared p-tau181 tests in helping PCPs rule out AD pathobiology (2:15) Differentiate between normal age-related cognitive decline, mild cognitive impairment (MCI), dementia, and Alzheimer’s disease (4:30) Translate the pathophysiology of AD (amyloid plaques and tau tangles) into the clinical utility of advanced blood-based models, demonstrating how combining Aβ42/40 and p-tau217 accurately predicts amyloid PET positivity, while adding APOE4 significantly reduces indeterminate results (6:45) Outline an actionable primary care workflow for patients presenting with cognitive complaints, balancing AD biomarker testing with the assessment of secondary, reversible causes (14:10) Ordering information Quest AD-Detect ABeta 42/40 and p-tau217 Evaluation, Plasma Quest AD-Detect® Beta Amyloid 42/40 Ratio, Plasma Quest AD-Detect® Phosphorylated tau217 (p-tau217), Plasma Quest AD-Detect® Phosphorylated tau181 (p-tau181), Plasma Quest AD-Detect® Apolipoprotein E (ApoE) Isoform, Plasma Dementia Panel, Secondary Causes Additional resources Clinical Education Center | Quest Diagnostics Role of blood testing for Alzheimer’s disease biomarkers within the primary care setting | Quest Diagnostics Alzheimer's Risk Assessment | Quest Diagnostics The Coming Alzheimer's Disease Healthcare Revolution Survey Report AD Detect Multimarker Panel for PCPs | Quest Diagnostics   References Weber DM, Stroh MA, Taylor SW, et al. Development and clinical validation of blood-based multibiomarker models for the evaluation of brain amyloid pathology. Preprint. medRxiv. 2025;2025.02.27.25322892. April 2025. doi:10.1101/2025.02.27.25322892 Hansson O, Edelmayer RM, Boxer AL, et al. The Alzheimer's Association appropriate use recommendations for blood biomarkers in Alzheimer's disease. Alzheimers Dement. 2022;18(12):2669-2686. doi:10.1002/alz.12756 Jack CR Jr, Bennett DA, Blennow K, et al. NIA-AA Research Framework: Toward a biological definition of Alzheimer's disease. Alzheimers Dement. 2018;14(4):535-562. doi:10.1016/j.jalz.2018.02.018 Data on file. Quest Diagnostics; 2026.

  5. Jun 29

    40 - Unlocking answers faster with whole exome sequencing (17 min)

    Whole exome sequencing (WES) is transforming the way genetic testing has moved from a research tool to an increasingly important first-line diagnostic test for many patients. In this episode, Rebecca Johnson Wheeler, MS, CGC and Steve Keiles, MS, CGC discuss how advances in WES, growing insurance coverage, and expanding clinical applications are helping patients get answers faster while improving targeted treatment and care. This episode will Review current trends and guidelines driving increased adoption of whole exome sequencing in clinical practice (3:20) Discuss the potential benefits and limitations of whole exome sequencing including the important components of the test (4:55) Explain how the clinical interpretation of WES may change over time upon reevaluation as new patient information becomes available (8:15) Evaluate how genetic expertise can support clinicians throughout the testing and interpretation process (13:30) Date: June 2026 Speaker(s): Rebecca Johnson Wheeler, MS, CGC; Steve Keiles, MS, CGC Contributor(s): Rebecca Johnson Wheeler, MS, CGC; Steve Keiles, MS, CGC; Maeson Latsko, PhD; Meenakshi Mahey Kumar, MS, CGC; Whitney Dodge, MS, CGC; Emily Partack, MS, CGC   Additional resources: Test information: https://www.questdiagnostics.com/healthcare-professionals/about-our-tests/genetics/exome Blog: https://www.questdiagnostics.com/our-company/actions-insights/2026-blogs/considering-mitochondrial-genomes-in-whole-exome-testing Ordering information: Whole Exome | Test Detail | Quest Diagnostics Whole Exome Family Trio | Test Detail | Quest Diagnostics Whole Exome Family Duo | Test Detail | Quest Diagnostics References: Reinholdt L, Chesler E, Pera M, Rosenthal N. The rare-to-common disease journey: a winding road to new therapies. Trends Genet. 2025;41(9):762-773. doi:10.1016/j.tig.2025.05.003 Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-2037. doi:10.1038/s41436-021-01242-6 Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: an evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2023;32(2):266-280. doi:10.1002/jgc4.1646 Rodan LH, Stoler J, Chen E, Geleske T; Council on Genetics. Genetic evaluation of the child with intellectual disability or global developmental delay: clinical report. Pediatrics. 2025;156(1):e2025072219. doi:10.1542/peds.2025-072219 LJ, Minoche AE, Schofield D, et al. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis. Eur J Hum Genet. 2022;30(10):1121-1131. doi:10.1038/s41431-022-01162-2 van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013;50(7):463-472. doi:10.1136/jmedgenet-2013-101658 Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD. Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases. Mol Genet Metab. 2014;112(4):259-274. doi:10.1016/j.ymgme.2014.05.011

  6. Jun 8

    39 - Instant insights: How to screen for primary aldosteronism (updated guidelines) (9 min)

    In this special episode of Healthier World designed to give you Instant Insights, we take a look at primary aldosteronism (PA)- an often underdiagnosed, yet prevalent cause of hypertension. In this episode, we challenge traditional screening methods and introduce a streamlined diagnostic approach. By recognizing the signs of Primary Aldosteronism earlier, providers can improve patient outcomes and avoid increased risk for cardiovascular and metabolic conditions associated with untreated PA. This episode will Explain the mechanisms underlying PA and how they disrupt the normal renin-aldosterone feedback system (1:50) Highlight the limitations of historic methodology, and describe updated guidance on PA evaluation (3:10) Walk through an example comparing the ARR with the suppressed renin approach for assessing PA (5:50) Explain the cardiometabolic consequences of untreated PA and the importance of proactive screening, particularly in patients with chronic kidney disease (6:50)   The content was current as of the time of recording. To learn more, please review the additional resources below for information on our cardiovascular, metabolic, endocrine, and wellness offerings as well as educational resources and insights from our team of experts. At Quest Diagnostics, we are committed to providing you with results and insights to support your clinical decisions. Date: 6/2025 Speaker(s): Maeson Latsko, PhD Contributor(s): Maeson Latsko, PhD; Trisha Winchester, PhD; Millicent Kee, MSN, FNP-BC; Akhil Singh; Smruti Sheth, Marco Marcelli, MD Additional Resources: https://www.questdiagnostics.com/healthcare-professionals/about-our-tests/endocrine-disorders/primary-aldosteronism Ordering information: Plasma Renin Activity with Reflex to Aldosterone | Test Detail | Quest Diagnostics   References: Adler GK, Stowasser M, Correa RR, et al. Primary Aldosteronism: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2025;110(9):2453-2495. doi:10.1210/clinem/dgaf284   Writing Committee Members*, Jones DW, Ferdinand KC, et al. 2025 AHA/ACC/AANP/AAPA/ABC/ACCP/ACPM/AGS/AMA/ASPC/NMA/PCNA/SGIM Guideline for the Prevention, Detection, Evaluation and Management of High Blood Pressure in Adults: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Hypertension. 2025;82(10):e212-e316. doi:10.1161/HYP.0000000000000249   Marcelli M, Bi C, Funder JW, McPhaul MJ. Comparing ARR Versus Suppressed PRA as Screening Tests for Primary Aldosteronism. Hypertension. 2024;81(10):2072-2081. doi:10.1161/HYPERTENSIONAHA.124.22884   Dogra P, Bancos I, Young WF Jr. Primary Aldosteronism: A Pragmatic Approach to Diagnosis and Management. Mayo Clin Proc. 2023;98(8):1207-1215. doi:10.1016/j.mayocp.2023.04.023

  7. May 26

    38 - Instant insights: Using ANAlyzeR to navigate systemic autoimmune disease (6 min)

    Millions of people with systemic autoimmune diseases face a long and frustrating journey to diagnosis, often lasting years. In this episode, Dr Maeson Latsko explores how to expand on the standard antinuclear antibody (ANA) test for autoimmune disease. While the ANA test is a critical starting point, a negative result doesn't rule out disease, and a positive result is not a definitive diagnosis. The ANAlyzeR™ panel is a comprehensive test that evaluates 25 autoimmune markers from a single blood draw. This approach provides a full-picture view from the outset, helping clinicians differentiate between 8 common autoimmune conditions, reduce diagnostic uncertainty, and get patients on the path to treatment sooner. This episode will: Describe the challenges and delays in the typical diagnostic journey for patients with systemic autoimmune diseases (1:00) Explain the role of the ANA test as a first-line screening tool (2:00) Introduce the ANAlyzeR™ comprehensive panel as a solution to shorten the diagnostic process by simultaneously evaluating 25 analytes, to identify 8 common autoimmune conditions, regardless of the initial ANA result (3:55) Additional resources ANAlyzeR™ Test Summary: https://testdirectory.questdiagnostics.com/test/test-detail/36378/analyzer-ana-ifa-with-reflex-titerpattern-systemic-autoimmune-panel-1 ANAlyzeR™ Data Analysis Review Guide: DiagnoseAutoimmune.com Quest Diagnostics Clinical Education Center: https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center   References Liu X, Patel AB, Seidel JE, et al. Traveling towards timeliness: the association between geographic access and wait times for rheumatology consultation in a centralized referral system. Healthcare (Basel). 2025;13(19):2533. doi:10.3390/healthcare13192533 Mechleb K, Hmamouchi I, Abdulateef N, et al. Exploring diagnostic timelines: a cross-sectional study of referral and diagnostic delays of patients with chronic inflammatory rheumatic diseases. Arab J Rheumatol. 2025;3:5-13. doi:10.4103/ajr.ajr_17_24 Autoimmune Association. Tips for getting a diagnosis of an autoimmune disease. Accessed February 24, 2026. https://autoimmune.org/resource-center/diagnosis-tips/ Data on file. Quest Diagnostics; 2026. Lockshin ME, Levine AB, Erkan D. Patients with overlap autoimmune disease differ from those with 'pure' disease. Lupus Sci Med. 2015;2:e000084. doi:10.1136/lupus-2015-000084 Icen M, Nicola PJ, Maradit-Kremers H, et al. Systemic lupus erythematosus features in rheumatoid arthritis and their impact on overall mortality. J Rheumatol. 2009;36(1):50-57. doi:10.3899/jrheum.080091 Aringer M, Costenbader K, Daikh D, et al. 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus. Ann Rheum Dis. 2019;78(9):1151-1159. Petri M, Orbai AM, Alarcón GS, et al. Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum. 2012;64(8):2677-2686. Aletaha D, Neogi T, Silman AJ, et al. 2010 rheumatoid arthritis classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Arthritis Rheum. 2010;62(9):2569-2581. doi:10.1002/art.27584

  8. May 11

    37 - Instant insights: Whole exome sequencing for rare disease (8 min)

    The diagnostic landscape for rare disease is being reshaped by whole exome sequencing, which is increasingly used as a first-line test for cases involving unexplained developmental delay, epilepsy, or multisystem disease. In this episode, Rebecca Johnson Wheeler, MS, CGC, explores how whole exome sequencing and Quest Diagnostics genetic experts are transforming rare disease diagnosis by enabling earlier answers, reducing unnecessary testing, and improving care for patients and families. This episode will Describe whole exome sequencing in rare disease (1:40) Review clinical indications and guidelines for whole exome sequencing, including the available test options (3:25) Explain the role of genetic counselors in supporting rare disease and whole exome sequencing (5:50)   Date: May 2026 Speaker(s): Rebecca Johnson Wheeler, MS, CGC Contributor(s): Rebecca Johnson Wheeler, MS, CGC; Maeson Latsko, PhD; Meenakshi Mahey Kumar, MS, CGC; Natalie Cuttic; Whitney Dodge, MS, CGC; Khalida Liaquat, MS, CGC   Additional resources: Quest Diagnostics Clinical Education Center [Link] Test information: https://www.questdiagnostics.com/healthcare-professionals/about-our-tests/genetics/exome Blog: https://www.questdiagnostics.com/our-company/actions-insights/2026-blogs/considering-mitochondrial-genomes-in-whole-exome-testing Ordering information: Whole Exome | Test Detail | Quest Diagnostics Whole Exome Family Trio | Test Detail | Quest Diagnostics Whole Exome Family Duo | Test Detail | Quest Diagnostics References: Reinholdt L, Chesler E, Pera M, Rosenthal N. The rare-to-common disease journey: a winding road to new therapies. Trends Genet. 2025;41(9):762-773. doi:10.1016/j.tig.2025.05.003 Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-2037. doi:10.1038/s41436-021-01242-6 Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2023;32(2):266-280. doi:10.1002/jgc4.1646 Rodan LH, Stoler J, Chen E, Geleske T; Council on Genetics . Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report. Pediatrics. 2025;156(1):e2025072219. doi:10.1542/peds.2025-072219Ewans LJ, Minoche AE, Schofield D, et al. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis. Eur J Hum Genet. 2022;30(10):1121-1131. doi:10.1038/s41431-022-01162-2 van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013;50(7):463-472. doi:10.1136/jmedgenet-2013-101658 Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD. Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases. Mol Genet Metab. 2014;112(4):259-274. doi:10.1016/j.ymgme.2014.05.011

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Healthier World with Quest Diagnostics aims to prompt action from insight as we keep you up to date on current clinical and diagnostic topics to transform lives and illuminate a path to better health.

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