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See Molecular Genetics for details of the deletion and genes of interest.

Standardized ISCN annotation and interpretation for genomic variants from the Clinical Genome Resource (ClinGen) project (formerly the International Standards for Cytogenomic Arrays [ISCA] Consortium). Genomic coordinates represent the minimum deletion size associated with the 3q29 recurrent deletion as designated by ClinGen. Deletion coordinates may vary slightly based on array design used by the testing laboratory. Note that the size of the deletion as calculated from these genomic positions may differ from the expected deletion size due to the presence of segmental duplications near breakpoints. The phenotype of significantly larger or smaller deletions within this region may be clinically distinct from the 3q29 recurrent deletion (see Genetically Related Disorders).

Chromosomal microarray analysis (CMA) using oligonucleotide or SNP arrays. CMA designs in current clinical use target the 3q29 region.

Targeted deletion analysis methods can include FISH, quantitative PCR, and multiplex ligation-dependent probe amplification (MLPA) as well as other targeted quantitative methods.

Not applicable. Targeted deletion analysis is not appropriate for an individual in whom the 3q29 recurrent deletion was not detected by CMA designed to target this region.

Targeted deletion analysis may be used to test at-risk relatives of a proband known to have the 3q29 recurrent deletion.