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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 37

Learn how cell-free DNA prenatal screening works, what low-chance, high-chance, no-call, and atypical results mean, and when CVS or amniocentesis is needed.

Cell-Free DNA (cfDNA) Prenatal Test: Fetal Chromosome Screening and Results

Learn how CFTR testing helps diagnose congenital absence of the vas deferens, how to read results, why partner testing matters, and which fertility options are available.

CFTR Genetic Test for Male Infertility: Congenital Absence of the Vas...

Learn how chorionic villus sampling provides early prenatal diagnosis, how CVS is performed, what normal, abnormal, uncertain, and mosaic results mean, and when amniocentesis may be needed.

Chorionic Villus Sampling (CVS) Genetic Test: Prenatal Diagnosis and Results

Understand Down syndrome genetic testing, including trisomy 21 screening, CVS and amniocentesis diagnosis, chromosome results, recurrence, and next steps.

Down Syndrome Genetic Test: Trisomy 21 Screening, Diagnosis, and Results

Learn how Edwards syndrome genetic testing screens for and diagnoses trisomy 18, how results are reported, and what they mean for care and recurrence.

Edwards Syndrome Genetic Test: Trisomy 18 Screening, Diagnosis, and Results

Understand embryo genetic testing in IVF, including PGT-A, PGT-M, PGT-SR, biopsy, mosaic results, limitations, embryo transfer, and prenatal confirmation.

Embryo Genetic Testing: IVF, Chromosomes, Mutations, and Results

Understand fetal aneuploidy testing for trisomy, monosomy, chromosome risk, screening results, diagnostic confirmation, mosaicism, and next steps.

Fetal Aneuploidy Test: Trisomy, Monosomy, Chromosome Risk, and Results

Understand first-trimester screening for Down syndrome risk, including PAPP-A, hCG, nuchal translucency, result ratios, limitations, and follow-up options.

First-Trimester Screening Test: Down Syndrome Risk, PAPP-A, hCG, and Results

Understand infertility karyotype testing, including chromosome abnormalities, male and female findings, result notation, limitations, and reproductive options.

Karyotype Test for Infertility: Chromosome Abnormalities and Results

Understand Klinefelter syndrome genetic testing, including 47,XXY and mosaic results, prenatal confirmation, hormone follow-up, fertility options, and next steps.

Klinefelter Syndrome Genetic Test: XXY Chromosomes, Diagnosis, and Results

Learn how the maternal serum AFP test screens for open neural tube defects, how MoM results are calculated, why AFP may be high, and what follow-up involves.

Maternal Serum AFP Test: Neural Tube Defect Risk and Pregnancy Results

Understand newborn cystic fibrosis screening, including IRT, CFTR variant results, sweat chloride confirmation, carrier findings, and CRMS/CFSPID follow-up.

Newborn Cystic Fibrosis Screening Test: IRT, CFTR, and Results

Understand newborn SCID screening, including TREC results, causes of low T cells, confirmatory flow cytometry, urgent precautions, genetic testing, and treatment.

Newborn SCID Screening Test: TREC, Immune Deficiency, and Results

Understand newborn screening for inherited metabolic disorders, including blood-spot markers, abnormal results, time-critical follow-up, confirmatory tests, and genetics.

Newborn Screening Genetic Test: Inherited Metabolic Disorders and Results

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

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