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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 2

Understand newborn SMA screening, SMN1 and SMN2 results, confirmatory testing, early treatment decisions, missed variants, and family planning after an abnormal result.

Newborn SMA Screening Test: SMN1 Gene, Early Diagnosis, and Results

Learn how NIPT screens for trisomy 21, trisomy 18, and trisomy 13, what low-risk, high-risk, and no-call results mean, and when diagnostic testing is needed.

Noninvasive Prenatal Testing (NIPT): Trisomy 21, Trisomy 18, Trisomy 13, and...

Learn how a parental karyotype test can identify balanced translocations and other chromosome changes linked to infertility, recurrent miscarriage, and pregnancy risk.

Parental Karyotype Test: Infertility, Miscarriage, Translocations, and Results

Understand Patau syndrome genetic testing, including trisomy 13 screening, CVS and amniocentesis diagnosis, result interpretation, prognosis, and recurrence risk.

Patau Syndrome Genetic Test: Trisomy 13 Screening, Diagnosis, and Results

Learn how PGT works in IVF, including PGT-A, PGT-M, and PGT-SR, embryo biopsy, result terms, limitations, transfer decisions, costs, and prenatal follow-up.

Preimplantation Genetic Testing (PGT): IVF Embryo Testing and Results

Explore how PGT-A screens IVF embryos for chromosome abnormalities, what euploid, aneuploid, mosaic, and no-result findings mean, and where evidence and limits apply.

Preimplantation Genetic Testing for Aneuploidy (PGT-A): Embryo Chromosomes and Results

Learn how PGT-M tests IVF embryos for a known inherited disease, including assay development, linkage, affected and carrier results, limitations, and prenatal confirmation.

Preimplantation Genetic Testing for Monogenic Disease (PGT-M): Inherited Disease and Results

Understand how PGT-SR tests IVF embryos from translocation or inversion carriers, including normal, balanced, unbalanced, mosaic, and inconclusive results.

Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR): Translocations and Results

Prenatal chromosomal microarray testing detects fetal chromosome deletions and duplications. Learn when CMA is used, how results and VUS are interpreted, and its limits.

Prenatal Chromosomal Microarray Test: Deletions, Duplications, and Results

Prenatal exome sequencing can diagnose single-gene causes of fetal anomalies. Learn who may be offered testing, diagnostic yield, result types, limits, and next steps.

Prenatal Exome Sequencing Test: Fetal Anomalies, Genetic Diagnosis, and Results

Prenatal genetic screening estimates the chance of chromosome conditions. Compare cfDNA, serum, and ultrasound screening, understand results, and learn when diagnosis is needed.

Prenatal Genetic Screening Test: Chromosome Conditions, Risk, and Results

A prenatal karyotype diagnoses chromosome number and structural abnormalities. Learn how CVS or amniocentesis results are written, what mosaicism means, and when other tests are needed.

Prenatal Karyotype Test: Chromosome Abnormalities and Results

Prenatal 22q11.2 microdeletion testing may be screening or diagnostic. Learn how cfDNA differs from microarray, how positives are confirmed, and what a deletion can mean.

Prenatal Microdeletion Test: 22q11.2 Deletion, Risk, and Results

POC genetic testing can identify chromosome causes of miscarriage. Learn how tissue is collected, why maternal contamination matters, how microarray results are read, and what comes next.

Products of Conception (POC) Genetic Test: Miscarriage Chromosome Results

Understand recurrent pregnancy loss genetic testing, including miscarriage-tissue analysis, parental karyotypes, translocations, result meanings, and reproductive options.

Recurrent Pregnancy Loss Genetic Test: Karyotype, Translocations, and Results

Learn how the second-trimester quad screen uses AFP, hCG, estriol, and inhibin A, what positive and negative results mean, and which follow-up tests may be offered.

Second-Trimester Quad Screen Test: AFP, hCG, Estriol, Inhibin A, and Results

Understand sex chromosome aneuploidy testing for 45,X, XXY, XXX, XYY, and mosaic results, including prenatal screening accuracy, diagnostic confirmation, and clinical meaning.

Sex Chromosome Aneuploidy Test: X and Y Chromosome Results

Learn how Turner syndrome testing detects 45,X, mosaic, and structural X results, why cfDNA screening needs confirmation, and what diagnosis means before and after birth.

Turner Syndrome Genetic Test: Monosomy X Screening, Diagnosis, and Results

Understand Y-chromosome microdeletion testing for male infertility, including AZFa, AZFb, and AZFc results, sperm retrieval prognosis, ICSI inheritance, and next steps.

Y-Chromosome Microdeletion Test: Male Infertility, AZF Regions, and Results

Learn how HLA, CYP2C9, and CYP2C19 anticonvulsant pharmacogenetic test results may affect carbamazepine, phenytoin, clobazam, skin-reaction risk, dosing, and follow-up.

Anticonvulsant Pharmacogenetic Test: HLA, CYP2C9, CYP2C19, and Results

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