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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 5

Understand Angelman syndrome genetic testing for UBE3A, methylation, deletions, uniparental disomy, and imprinting defects, including results and recurrence risk.

Angelman Syndrome Genetic Test: UBE3A, Methylation, Deletion, and Results

Learn what an APOE genotype test shows about Alzheimer disease risk, cholesterol disorders, anti-amyloid treatment safety, and ε2, ε3, and ε4 results.

APOE Genotype Test: Alzheimer Disease Risk, Cholesterol, and Results

Learn how chromosomal microarray, exome sequencing, genome sequencing, and targeted tests are used in autism, what results mean, and how findings may guide care.

Autism Genetic Testing: Chromosomal Microarray, Exome Sequencing, and Results

Learn how Becker muscular dystrophy genetic testing detects DMD deletions, duplications, and sequence variants, and what results mean for weakness, heart care, and family risk.

Becker Muscular Dystrophy Genetic Test: DMD Gene, Muscle Weakness, and Results

Understand how C9orf72 repeat expansion testing relates to ALS and frontotemporal dementia, how results are classified, and what they mean for family risk.

C9orf72 Genetic Test: ALS, Frontotemporal Dementia, and Results

Learn how Charcot-Marie-Tooth genetic testing evaluates PMP22, GJB1, MFN2, MPZ, copy-number changes, inheritance, and positive, negative, or uncertain results.

Charcot-Marie-Tooth Disease Genetic Test: PMP22, GJB1, MFN2, MPZ, and Results

Understand congenital myasthenic syndrome genetic panels, neuromuscular junction genes, result categories, inheritance, and why the exact subtype can change treatment.

Congenital Myasthenic Syndrome Genetic Test: Neuromuscular Junction Genes and Results

Understand CYP2D6 and CYP2C19 antidepressant pharmacogenetic results, metabolizer phenotypes, drug interactions, dosing implications, and test limitations.

CYP2D6 and CYP2C19 Psychiatric Medication Pharmacogenetic Test: Antidepressant Results

Learn how developmental delay genetic testing uses microarray, exome, genome, Fragile X, and targeted tests, and how to interpret positive, negative, and uncertain results.

Developmental Delay Genetic Test: DNA Variants, Diagnosis, and Results

Understand SCN1A genetic testing for Dravet syndrome, including who should be tested, variant results, treatment implications, inheritance, mosaicism, and negative tests.

Dravet Syndrome Genetic Test: SCN1A Gene Mutations and Results

Understand DMD genetic testing for Duchenne muscular dystrophy, including exon deletions, duplications, sequencing, reading-frame results, treatment eligibility, and carrier risk.

Duchenne Muscular Dystrophy Genetic Test: DMD Gene, Deletions, and Results

Learn how epilepsy genetic panel testing evaluates seizure genes, who benefits, how to interpret positive, uncertain, and negative results, and when findings can guide treatment.

Epilepsy Genetic Panel Test: Seizure Genes, Diagnosis, and Results

Understand FSHD genetic testing, including D4Z4 repeat size, permissive 4qA haplotypes, SMCHD1, methylation, FSHD1 versus FSHD2, mosaicism, and results.

Facioscapulohumeral Muscular Dystrophy Genetic Test: D4Z4 Repeat, SMCHD1, and Results

Understand Fragile X FMR1 testing, CGG repeat ranges, methylation, mosaicism, autism-related features, premutation risks, AGG interruptions, and family results.

Fragile X Genetic Test: FMR1 CGG Repeats, Autism, and Results

Understand Friedreich ataxia genetic testing, FXN GAA repeat ranges, positive and carrier results, inheritance, limitations, and follow-up care.

Friedreich Ataxia Genetic Test: FXN Gene, GAA Repeats, and Results

Learn how MAPT, GRN, and C9orf72 testing is used in frontotemporal dementia, what positive or uncertain results mean, and how relatives are affected.

Frontotemporal Dementia Genetic Test: MAPT, GRN, C9orf72, and Results

Understand GBA genetic testing for Parkinson disease risk and Gaucher disease, including methods, variant results, inheritance, limitations, and follow-up.

GBA Genetic Test: Parkinson Disease Risk, Gaucher Disease, and Results

Learn how hereditary ataxia genetic testing detects SCA genes and repeat expansions, what positive, negative, and uncertain results mean, and when broader testing helps.

Hereditary Ataxia Genetic Test: Spinocerebellar Ataxia Genes and Results

Understand hereditary spastic paraplegia genetic testing, including common HSP genes, panel and genome methods, result meanings, inheritance, mimics, and follow-up.

Hereditary Spastic Paraplegia Genetic Test: Spasticity Genes and Results

Learn how the Huntington disease genetic test measures HTT CAG repeats, what each result range means, and how predictive testing, inheritance, and follow-up work.

Huntington Disease Genetic Test: HTT CAG Repeats, Risk, and Results

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