Table 1.

Genomic Testing Used in 17q12 Recurrent Deletion Syndrome

Deletion 1MethodSensitivity
ProbandAt-risk family
members
1.4-Mb heterozygous deletion at 17q12
ISCN: seq[GRCh38] del(17)(q12)
chr17:g. 36,458,167-37,854,616del 2
ClinGen ID: ISCA-37432		CMA 3100%100%
Exome & genome
sequencing 4		100%100%
Targeted deletion
analysis 5		NA 6100% 7
1.

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

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). The region is identified in dbVar (www​.ncbi.nlm.nih.gov/dbvar) as nsv491563. Genomic coordinates represent the minimum deletion size associated with the 17q12 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 17q12 deletion (see Genetically Related Disorders).

3.

Chromosomal microarray analysis (CMA) using oligonucleotide arrays or SNP arrays. CMA designs in current clinical use target the 17q12 region. Note: The 17q12 recurrent deletion may not have been detectable by older oligonucleotide or BAC platforms.

4.

Copy number variant-calling algorithms need to be utilized to detect the 17q12 recurrent deletion.

5.

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

6.

Targeted deletion analysis is not appropriate for an individual in whom the 17q12 recurrent deletion was not detected by CMA designed to target this region.

7.

Targeted deletion analysis may be used to test at-risk relatives of a proband known to have the 17q12 recurrent deletion.

From: 17q12 Recurrent Deletion Syndrome

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