Evidence-Based Supplement & Herb Guides

Cystic Fibrosis Carrier Test: CFTR Gene Mutations, Risk, and Results

Learn how CFTR carrier testing identifies cystic fibrosis risk, compares panels with sequencing, explains complex variants, and guides partner testing.

A cystic fibrosis carrier test looks for disease-associated variants in CFTR, the gene that controls chloride and bicarbonate transport across epithelial cells. Most people...

Duchenne Muscular Dystrophy Genetic Test: DMD Gene Mutations and Results

Learn how DMD gene testing diagnoses Duchenne muscular dystrophy, detects deletions and sequence variants, explains results, and guides family care.

A Duchenne muscular dystrophy genetic test analyzes the DMD gene to identify the molecular cause of progressive muscle weakness and dystrophin loss. A confirmed...

Ehlers-Danlos Syndrome Genetic Test: COL5A1, COL5A2, COL3A1, and Results

Understand Ehlers-Danlos genetic testing for COL5A1, COL5A2, and COL3A1, including classic and vascular EDS results, negative panels, VUS findings, family risk, and next steps.

An Ehlers-Danlos syndrome genetic test can confirm certain inherited connective tissue disorders, but it is not a single yes-or-no test for every form of...

Expanded Carrier Screening Test: Genetic Disease Risk, Genes, and Results

Learn how expanded carrier screening evaluates genetic disease risk, how panel genes and methods differ, what positive and negative results mean, and how partner findings guide pregnancy options.

Expanded carrier screening checks many genes at once to identify reproductive risks that may not be suggested by ancestry or family history. Most people...

Fabry Disease Genetic Test: GLA Gene Mutations, Symptoms, and Results

Understand Fabry disease GLA genetic testing, including classic and late-onset symptoms, enzyme and lyso-Gb3 results, variant interpretation, X-linked family risk, treatment relevance, and next steps.

A Fabry disease genetic test looks for disease-causing variants in the GLA gene, which provides instructions for the lysosomal enzyme alpha-galactosidase A. When this...

Familial Dysautonomia Carrier Test: ELP1 Gene, Carrier Risk, and Results

Learn what an ELP1 familial dysautonomia carrier test checks, how positive and negative results affect pregnancy risk, and which follow-up steps matter.

A familial dysautonomia carrier test looks for disease-causing variants in the ELP1 gene, most often before pregnancy or early in pregnancy. Familial dysautonomia is...

Familial Mediterranean Fever Genetic Test: MEFV Gene Mutations and Results

Understand what an MEFV genetic test can show, how one or two variants affect an FMF diagnosis, and why negative or uncertain results need clinical context.

A familial Mediterranean fever genetic test examines the MEFV gene for variants linked to recurrent inflammatory attacks. Familial Mediterranean fever, or FMF, is an...

Familial Variant Genetic Test: Known Mutation, Targeted Testing, and Results

Learn how targeted familial variant testing works, what positive and true negative results mean, and why the original genetic report is essential for accurate cascade testing.

A familial variant genetic test checks for a specific DNA change that has already been identified in a biological relative. It is also called...

Fragile X Carrier Test: FMR1 Gene, CGG Repeats, and Results

Understand FMR1 CGG repeat ranges, premutation carrier risks, maternal expansion, AGG interruptions, and next steps after a Fragile X carrier test.

A Fragile X carrier test measures the number of CGG repeats in the FMR1 gene and may also assess methylation, a chemical change that...

Gaucher Disease Genetic Test: GBA1 Gene Mutations, Carrier Risk, and Results

Understand GBA1 testing for Gaucher disease, carrier and partner risk, pseudogene limitations, two-variant results, residual risk, and Parkinson susceptibility.

A Gaucher disease genetic test looks for disease-causing changes in GBA1, the gene that provides instructions for the lysosomal enzyme acid beta-glucosidase. The test...

Hemoglobinopathy Carrier Screening Test: Sickle Cell Disease, Thalassemia, and Results

Learn how hemoglobinopathy carrier screening identifies sickle cell trait, alpha- and beta-thalassemia, partner risk, confusing patterns, and pregnancy options.

Hemoglobinopathy carrier screening checks for inherited changes that alter hemoglobin, the protein in red blood cells that carries oxygen. It can identify sickle cell...

Hereditary Cancer Genetic Screening Test: BRCA1/BRCA2, Lynch Syndrome, APC, and Results

Understand hereditary cancer screening for BRCA1/BRCA2, Lynch syndrome, and APC, including test selection, positive and negative results, VUS findings, and family risk.

Hereditary cancer genetic screening looks for inherited variants that can raise the chance of specific cancers across a lifetime. A multigene panel may include...

Hereditary Hearing Loss Genetic Test: GJB2, GJB6, Mitochondrial DNA, and Results

Understand GJB2, GJB6-region, and mitochondrial hearing-loss testing, including carrier findings, maternal inheritance, aminoglycoside risk, panel limits, and family results.

A hereditary hearing loss genetic test searches for inherited changes that affect the inner ear, auditory nerve, or related structures. Common targets include GJB2,...

Hereditary Hemochromatosis Genetic Test: HFE Gene, C282Y, H63D, and Results

Understand HFE C282Y and H63D results, iron studies, penetrance, liver-risk assessment, family testing, and when hereditary hemochromatosis treatment is appropriate.

An HFE genetic test looks for inherited variants associated with the most common form of adult hereditary hemochromatosis. The key result is usually C282Y,...

Hereditary Pancreatitis Genetic Test: PRSS1, SPINK1, CFTR, CTRC, and Results

Understand hereditary pancreatitis genetic testing for PRSS1, SPINK1, CFTR, and CTRC, including positive, negative, uncertain, family, and cancer-risk results.

A hereditary pancreatitis genetic test looks for inherited variants that may explain recurrent acute pancreatitis, early chronic pancreatitis, or a strong family pattern of...

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

Understand the Huntington disease HTT CAG repeat test, including normal, intermediate, reduced-penetrance, positive, predictive, family, and reproductive results.

A Huntington disease genetic test measures the number of CAG repeats in the HTT gene. Unlike standard sequencing, which looks for a change in...

Maple Syrup Urine Disease Genetic Test: BCKDHA, BCKDHB, DBT, and Results

Understand MSUD genetic testing for BCKDHA, BCKDHB, and DBT, including newborn screening, two-variant diagnosis, carrier risk, VUS, and emergency care.

A maple syrup urine disease genetic test looks for disease-causing variants in BCKDHA, BCKDHB, and DBT, the three genes responsible for most cases of...

Marfan Syndrome Genetic Test: FBN1 Gene Mutations, Risk, and Results

Understand FBN1 genetic testing for Marfan syndrome, including clinical criteria, positive, negative, and VUS results, aortic care, family risk, and pregnancy.

A Marfan syndrome genetic test examines FBN1, the gene that provides instructions for fibrillin-1, an essential component of connective tissue. A pathogenic FBN1 variant...

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Genetic Test: ACADM Gene and Results

Understand ACADM genetic testing for MCAD deficiency, including newborn screening, c.985A>G, positive, carrier, VUS, negative results, fasting, and family risk.

A medium-chain acyl-CoA dehydrogenase deficiency genetic test analyzes ACADM, the gene responsible for MCAD deficiency. This inherited fatty acid oxidation disorder limits the body’s...

Neurofibromatosis Type 1 Genetic Test: NF1 Gene Mutations and Results

Understand NF1 genetic testing, including revised diagnostic criteria, mosaic and RNA testing, positive, negative, and VUS results, tumor warning signs, and family risk.

A neurofibromatosis type 1 genetic test looks for a disease-causing variant in NF1, the gene that encodes neurofibromin. NF1 is a common inherited tumor-predisposition...