informative family structure

Full Definition

An informative family structure refers to a pedigree configuration that provides sufficient genetic information to perform meaningful analysis, such as linkage studies, carrier status determination, or preimplantation genetic testing. Key elements include availability of affected and unaffected family members across generations, accessible DNA samples, and clear inheritance patterns. Non-informative families may lack sufficient affected individuals, have uncertain paternity, or present with isolated cases that prevent accurate genetic analysis.

Usage

Usage note: Use as two words when discussing the concept generally.

In Context

• "The informative family structure allowed for accurate carrier testing of at-risk relatives." — Genetic counseling report
• "PGT-M development requires an informative family structure with available samples." — Laboratory consultation