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Understand ALK fusion testing in lung cancer, including what a positive or negative result means, tissue and ctDNA methods, limitations, and treatment relevance.

ALK Fusion Test for Lung Cancer: Gene Fusion, Positive Result, and Molecular Meaning

Understand BRAF V600E testing in lung cancer, including what a positive or negative result means, tissue and ctDNA methods, limitations, and treatment relevance.

BRAF V600E Test for Lung Cancer: Mutation Status, Positive Result, and Molecular Meaning

Learn how the carcinoembryonic antigen (CEA) test is used in lung cancer, what high levels can mean, common non-cancer causes, reference ranges, and why serial trends matter.

CEA Test for Lung Cancer: Tumor Marker Monitoring, High Levels, and Result Meaning

Learn how the cytokeratin 19 fragment 21-1 (CYFRA 21-1) test is used in lung cancer, what high levels can mean, common non-cancer causes, reference ranges, and why serial trends matter.

CYFRA 21-1 Test for Lung Cancer: Tumor Marker Levels and Disease Monitoring

Understand EGFR exon 20 insertion testing in lung cancer, including what a positive or negative result means, tissue and ctDNA methods, limitations, and treatment relevance.

EGFR Exon 20 Insertion Test: Lung Cancer Mutation Status and Molecular Meaning

Understand EGFR mutation testing in lung cancer, including what a positive or negative result means, tissue and ctDNA methods, limitations, and treatment relevance.

EGFR Mutation Test for Lung Cancer: Exon 19, L858R, T790M, Mutation Status, and...

Diagnostics

Home Diagnostics Page 38

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

Understand how a BCHE genetic test, pseudocholinesterase activity, and dibucaine number reveal prolonged succinylcholine or mivacurium paralysis risk and guide safer anesthesia.

BCHE Genetic Test: Pseudocholinesterase Deficiency, Anesthesia Risk, and Results

Understand what CACNA1S genetic test results mean for malignant hyperthermia risk, trigger-free anesthesia, contracture testing, and family screening.

CACNA1S Genetic Test: Malignant Hyperthermia Risk and Results

Learn how DPYD, UGT1A1, TPMT, and NUDT15 results can guide fluoropyrimidine, irinotecan, and thiopurine dosing and toxicity prevention.

Chemotherapy Pharmacogenetic Test: DPYD, UGT1A1, TPMT, and Results

Understand COMT Val158Met results, dopamine metabolism, pain research, medication-response evidence, and why most COMT claims are not clinically actionable.

COMT Genetic Test: Dopamine Metabolism, Pain, Medication Response, and Results

Understand CYP1A2 genetic test results for caffeine and clozapine, including why smoking, inflammation, interactions, and drug levels often matter more.

CYP1A2 Genetic Test: Caffeine, Clozapine, Drug Metabolism, and Results

Understand CYP2B6 test results for efavirenz, methadone, and bupropion, including metabolizer phenotypes, drug-specific guidance, and test limitations.

CYP2B6 Genetic Test: Efavirenz, Methadone, Bupropion, and Results

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