CMA testing of children with autism, intellectual impairment, or multiple congenital anomalies detects clinically significant chromosomal deletions and duplications that are not visible by routine chromosome studies.

This article reviews the use of preimplantation genetic diagnosis (PGD), an assisted reproductive technology that has been used to evaluate embryos for genetic conditions prior to implantation.

Lynch syndrome, an autosomal dominant disorder that carries a high risk for colorectal and endometrial cancers, can be best detected by obtaining a family cancer history, screening colorectal and endometrial cancers for LS, and genetic testing of at-risk patients and family members.

Dilated cardiomyopathy (DCM) is a broad category of conditions in which the heart muscle enlarges, causing left ventricular systolic dysfunction. Clinicians should understand how to conduct genetic testing and manage this disorder.

NF1 is an autosomal dominant condition that exemplifies pleiotropy, the genetic effect of a single gene on multiple phenotypic traits. The disorder affects multiple systems.

New technology advances in cytogenetic and molecular technology have expanded clinicians' abilities to identity difficult-to-diagnose genetic conditions.

As knowledge related to rare genetic disorders grows, the role of the primary care provider must change to accommodate such patients.

A new law protects against the misuse of genetic information that may reduce health care benefits for patients and their families.

Genetic testing has rapidly expanded to include screening for thousands of genetic variants associated with common complex diseases.

The author explains the detail-oriented work of a pediatric geneticist working at a genetics clinic to help children and families dealing with rare disorders.