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Understand the 1-mg low-dose dexamethasone suppression test, the common cortisol cutoff of 1.8 mcg/dL, causes of nonsuppression, and the follow-up used for Cushing screening.

Low-Dose Dexamethasone Suppression Test: Cushing Syndrome Screening and Results

Learn how an 8–9 a.m. cortisol test screens for adrenal insufficiency, what low and intermediate results mean, how ACTH helps identify the cause, and when stimulation testing is needed.

Morning Cortisol Test: Low Levels, Adrenal Insufficiency, and Results

Learn how a pheochromocytoma and paraganglioma panel uses plasma or urine metanephrines, normetanephrine, catecholamines, and controlled collection to interpret abnormal results.

Pheochromocytoma and Paraganglioma Test Panel: Metanephrines, Normetanephrine, Catecholamines, and Results

Learn what plasma epinephrine, norepinephrine, and dopamine results mean, why collection posture matters, common causes of high values, and when metanephrine testing is preferred.

Plasma Catecholamines Test: Epinephrine, Norepinephrine, Dopamine, and Results

Learn how plasma free metanephrine and normetanephrine testing screens for pheochromocytoma and paraganglioma, why supine rest matters, and how high or borderline results are evaluated.

Plasma Free Metanephrines Test: Pheochromocytoma and Paraganglioma Screening, High Levels, and Results

Learn what a high plasma normetanephrine result means, why supine rest matters, common false-positive causes, when clonidine testing is used, and how PPGL evaluation proceeds.

Plasma Normetanephrine Test: High Levels, Pheochromocytoma Screening, and Results

Diagnostics

Home Diagnostics Page 6

Understand genetic testing for intellectual disability, including chromosomal microarray, exome sequencing, result types, limitations, and next steps.

Intellectual Disability Genetic Test: Chromosomal Microarray, Exome Sequencing, and Results

Learn how limb-girdle muscular dystrophy genetic testing evaluates muscle disease genes, interprets results, distinguishes mimics, and guides care.

Limb-Girdle Muscular Dystrophy Genetic Test: Muscle Disease Genes and Results

Understand LRRK2 genetic testing for Parkinson disease, including pathogenic variants, penetrance, family risk, uncertain results, and clinical next steps.

LRRK2 Genetic Test: Parkinson Disease Risk and Results

Learn how malignant hyperthermia genetic testing evaluates RYR1 and CACNA1S, what results mean, why negative tests can miss risk, and how to plan safe anesthesia.

Malignant Hyperthermia Genetic Test: RYR1, CACNA1S, Anesthesia Risk, and Results

Learn how DMPK and CNBP repeat-expansion tests diagnose myotonic dystrophy types 1 and 2, explain result ranges, inheritance, limitations, and medical follow-up.

Myotonic Dystrophy Genetic Test: DMPK, CNBP Repeat Expansions, and Results

Understand how neurologic genetic panels test brain, nerve, and muscle genes, what positive, VUS, carrier, and negative results mean, and when other tests are needed.

Neurologic Genetic Panel Test: Brain, Nerve, Muscle Genes, and Results

Learn how LRRK2, GBA1, SNCA, PRKN, PINK1, PARK7, and VPS35 testing is interpreted in Parkinson disease, including positive, carrier, VUS, and negative results.

Parkinson Disease Genetic Test: LRRK2, GBA, SNCA, PRKN, and Results

Learn what an Alzheimer disease polygenic risk score measures, how APOE and ancestry affect results, why percentiles are not probabilities, and where clinical limits remain.

Polygenic Risk Score (PRS) for Alzheimer Disease: Genetic Risk and Results

Learn how methylation, chromosomal microarray, maternal UPD testing, and imprinting-center analysis diagnose Prader-Willi syndrome and clarify recurrence risk.

Prader-Willi Syndrome Genetic Test: Methylation, Deletion, UPD, and Results

Learn what psychiatric pharmacogenetic tests can reveal about CYP2D6, CYP2C19, and antidepressant metabolism, why color bins have limits, and how to use results safely.

Psychiatric Pharmacogenetic Test: Depression, Anxiety, Medication Response, and Results

Learn how MECP2 sequencing, deletion testing, mosaicism, and result categories support a Rett syndrome diagnosis, family counseling, and care planning.

Rett Syndrome Genetic Test: MECP2 Gene Mutations and Results

Understand SMA genetic testing, including SMN1 and SMN2 copy number, silent-carrier risk, newborn screening, diagnostic results, and family next steps.

Spinal Muscular Atrophy (SMA) Genetic Test: SMN1, SMN2 Copy Number, and...

Learn how spinocerebellar ataxia CAG repeat testing works, what repeat ranges mean, why assay methods matter, and how results guide care and families.

Spinocerebellar Ataxia Genetic Test: CAG Repeat Expansions and Results

Learn how cell-free DNA testing is used for prenatal screening, cancer mutation analysis, and transplant monitoring, including result meanings, limitations, and follow-up.

Cell-Free DNA (cfDNA) Test: Prenatal Screening, Cancer, and Transplant Results

Understand how chromosomal microarray detects deletions and duplications, what pathogenic and uncertain CNV results mean, what CMA misses, and when follow-up testing is needed.

Chromosomal Microarray Test: Copy Number Variants, Deletions, and Duplications

Learn how copy number variant tests detect deletions and duplications, how methods differ, what pathogenic and uncertain CNV results mean, and which follow-up tests may be needed.

Copy Number Variant (CNV) Test: Deletions, Duplications, and Results

Learn how deletion/duplication genetic testing finds missing or extra exons, how MLPA and NGS dosage analysis work, and what positive, negative, and uncertain results mean.

Deletion/Duplication Genetic Test: Copy Number Variants and Results

Learn how digital PCR detects rare mutations and measures copy number, including partition counting, detection limits, result units, false signals, and follow-up.

Digital PCR (dPCR) Test: Low-Level Mutations, Copy Number, and Results

Learn how FISH testing uses fluorescent probes to detect gene deletions, duplications, amplifications, and fusions, including signal patterns, cutoffs, and limitations.

Fluorescence In Situ Hybridization (FISH) Test: Gene Deletions, Duplications, Fusions, and...

Gene fusion testing detects cancer-related rearrangements that can clarify diagnosis and guide targeted therapy; learn how RNA, DNA, FISH, PCR, and results differ.

Gene Fusion Test: Cancer Rearrangements, Fusion Genes, and Results

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