Evidence-Based Supplement & Herb Guides

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...

Neurofibromatosis Type 2 Genetic Test: NF2 Gene Mutations and Results

NF2 genetic testing explained: NF2-related schwannomatosis, mosaic and tumor testing, result interpretation, surveillance, hearing care, and family risk.

An NF2 genetic test looks for disease-causing changes in the NF2 gene, which can predispose a person to vestibular schwannomas, meningiomas, spinal tumors, peripheral...

Niemann-Pick Disease Genetic Test: SMPD1, NPC1, NPC2 Genes, and Results

Learn how SMPD1, NPC1, and NPC2 genetic testing identifies Niemann-Pick disease, what positive, carrier, negative, and uncertain results mean, and which follow-up tests may be needed.

A Niemann-Pick disease genetic test looks for disease-causing variants in SMPD1, NPC1, or NPC2, but these genes do not all cause the same disorder....

Osteogenesis Imperfecta Genetic Test: COL1A1, COL1A2 Genes, and Results

Understand how COL1A1 and COL1A2 genetic testing confirms osteogenesis imperfecta, how positive, negative, and uncertain results are interpreted, and what they mean for family risk and care.

An osteogenesis imperfecta genetic test most often examines COL1A1 and COL1A2, the genes that encode type I collagen. A pathogenic variant in either gene...

Pan-Ethnic Carrier Screening Test: Common Genetic Disorders and Results

Learn how pan-ethnic carrier screening tests common inherited disorders, how positive and negative results affect couple risk, and what partner testing and reproductive options may follow.

Pan-ethnic carrier screening tests people for inherited conditions without limiting the panel to disorders historically associated with one ancestry group. It is usually offered...

Phenylketonuria (PKU) Genetic Test: PAH Gene Mutations and Results

Learn how PAH genetic testing confirms phenylketonuria, how positive, carrier, negative, and uncertain results are interpreted, and why blood phenylalanine still guides treatment.

A phenylketonuria genetic test looks for pathogenic variants in the PAH gene, which provides instructions for phenylalanine hydroxylase. This enzyme converts the amino acid...

Polycystic Kidney Disease Genetic Test: PKD1, PKD2 Genes, and Results

Learn how PKD1 and PKD2 genetic testing confirms ADPKD, explains inheritance, clarifies uncertain results, and guides family testing and kidney follow-up.

A polycystic kidney disease genetic test looks for inherited changes that explain cyst formation, most often in PKD1 or PKD2. It can confirm autosomal...

Pompe Disease Genetic Test: GAA Gene Mutations, Carrier Risk, and Results

Understand GAA genetic testing for Pompe disease, including enzyme confirmation, carrier risk, pseudodeficiency, newborn screening, and positive or uncertain results.

A Pompe disease genetic test analyzes the GAA gene for inherited variants that reduce acid alpha-glucosidase activity. Pompe disease is an autosomal recessive lysosomal...

Primary Ciliary Dyskinesia Genetic Test: Ciliary Gene Mutations and Results

Learn how primary ciliary dyskinesia genetic testing identifies ciliary gene variants, works with nasal nitric oxide and microscopy, and explains family risk.

A primary ciliary dyskinesia genetic test looks for inherited variants that disrupt the structure or movement of motile cilia. These microscopic structures clear mucus...

Retinitis Pigmentosa Genetic Test: Inherited Eye Disease Genes and Results

Understand retinitis pigmentosa genetic testing, inherited retinal disease genes, inheritance patterns, syndromic risks, and positive or uncertain results.

A retinitis pigmentosa genetic test searches for inherited variants that damage retinal photoreceptors or supporting cells. Retinitis pigmentosa (RP) is not one disease caused...