Table 1.

Genomic Testing Used in the 16p11.2 Recurrent Deletion

Deletion 1MethodSensitivity
ProbandAt-risk family members
~593-kb heterozygous deletion at 16p11.2
ISCN: seq[GRCh38] del(16)(p11.2) chr16:29,638,676-30,188,531 2
ISCA-37400		CMA 3100%100%
Targeted deletion analysis 4NA 5100% 6
1.

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

2.

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 16p11.2 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 recurrent 16p11.2 deletion (see Genetically Related Disorders).

3.

Chromosome microarray analysis (CMA) using oligonucleotide or SNP arrays. CMA designs in current clinical use target the 16p11.2 region. Note: The 16p11.2 recurrent deletion may not have been detectable by older oligonucleotide or BAC platforms.

4.

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

5.

Targeted deletion analysis is not appropriate for an individual in whom the 16q11.2 recurrent deletion was not detected by CMA designed to target this region.

6.

Targeted deletion analysis may be used to test at-risk relatives of a proband known to have the 16q11.2 recurrent deletion.

From: 16p11.2 Recurrent Deletion

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