Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …

Abstract Disclaimer: These ACMG Standards and Guidelines were developed primarily as
an educational resource for clinical laboratory geneticists to help them provide quality …

Context.—With the decrease in the cost of sequencing, the clinical testing paradigm has
shifted from single gene to gene panel and now whole-exome and whole-genome …

METHODS This points to consider statement was informed by a review of the literature and
current guidelines. Resources consulted included PubMed and relevant American College …

Context.—The number of targeted next-generation sequencing (NGS) panels for genetic
diseases offered by clinical laboratories is rapidly increasing. Before an NGS-based test is …

Genetic tests often identify variants whose significance cannot be determined at the time
they are reported. In many situations, it is critical that clinicians be informed when new …

Next‐generation sequencing (NGS) is the most powerful diagnostic tool since the
roentgenogram. NGS will facilitate diagnosis on a massive scale, allowing interrogation of …

Physiciansareincreasinglyusingclinicalsequ… diagnosesofpatientswhomighthavegeneticd…
, whichmeans thataccuracyofsequencingandinterpretation …

Purpose The advent of next-generation sequencing resulted in substantial increases in the
number of variants detected, interpreted, and reported by molecular genetics diagnostic …

Rare genetic disorders, when considered together, are relatively common. Despite
advancements in genetics and genomics technologies as well as increased understanding …