Reproductive Health and Infertility

Algorithms

Amenorrhea Testing Algorithm
Hemochromatosis Testing Algorithm
Von Willebrand Disease Testing Algorithm
Wilson Disease Testing Algorithm

Topics

Amenorrhea
Ashkenazi Jewish Genetic Diseases
Carrier Screening for Genetic Disorders
Classic Galactosemia
Cystic Fibrosis
Evaluation of Infertility
Fragile X (FMR1)-Associated Disorders
Hemochromatosis
Hemolytic Disease of the Fetus and Newborn
Pregnancy and Prenatal Laboratory Testing
Prenatal Testing for Chromosomal Abnormalities and Neural Tube Defects
Skeletal Dysplasias
Thalassemias
Thyroid Cancer
Von Willebrand Disease - VWD
Wilson Disease

Test Fact Sheets

Ashkenazi Jewish Genetic Diseases Panel
Cystic Fibrosis (CFTR) Expanded Variant Panel
Cystic Fibrosis (CFTR) Sequencing and Deletion/Duplication
Cytogenomic Microarray, Products of Conception
Cytogenomic SNP Microarray, Fetal
Duchenne/Becker Muscular Dystrophy Deletion/Duplication With Reflex to Sequencing
Exome Sequencing
Familial Hypercholesterolemia Panel, Sequencing
Familial Mediterranean Fever (MEFV) Sequencing
Fragile X (FMR1) With Reflex to Methylation Analysis
Gaucher Disease
Hemochromatosis (HFE) 3 Variants
Holoprosencephaly Panel, Sequencing and Deletion/Duplication
Maternal Serum Screening
Noninvasive Prenatal Aneuploidy Screen by Cell-Free DNA Sequencing
Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication
Platelet Antigen Genotyping Panel
Red Blood Cell Antigen Genotyping
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication
Spinal Muscular Atrophy Copy Number Analysis
Tay-Sachs Disease (HEXA) Sequencing and Deletion/Duplication
Very Long-Chain Acyl-CoA Dehydrogenase (ACADVL) Deficiency
Von Willebrand Disease (VWF) Sequencing
Wilson Disease (ATP7B) Sequencing
X-Chromosome Inactivation Analysis
Y Chromosome Microdeletions