Table 1.

Genomic Testing Used in 7q11.23 Duplication Syndrome

Duplication 1MethodSensitivity
ProbandAt-risk family members
1.5- to 1.8-Mb heterozygous duplication at 7q11.23
ISCN: seq[GRCh38] dup(7)(q11.23) chr7:73,330,452-74,728,172dup 2
ClinGen ID: ISCA-37392		CMA 3100%100%
Targeted duplication analysis 4NA 5100% 6
1.

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

2.

Standardized clinical 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 duplication size associated with the 7q11.23 duplication as designated by ClinGen. Duplication coordinates may vary slightly based on array design used by the testing laboratory. Note that the size of the duplication as calculated from these genomic positions may differ from the expected duplication size due to the presence of segmental duplications near breakpoints. The phenotype of significantly larger or smaller duplications within this region may be clinically distinct from the 7q11.23 duplication (see Genetically Related Disorders).

3.

Chromosomal microarray analysis (CMA) using oligonucleotide arrays or SNP arrays. CMA designs in current clinical use target the 7q11.23 region.

4.

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

5.

Not applicable. Targeted duplication analysis is not appropriate for an individual in whom the 7q11.23 duplication was not detected by CMA designed to target this region.

6.

Targeted duplication analysis may be used to test at-risk relatives of a proband who is known to have the 7q11.23 duplication.

From: 7q11.23 Duplication Syndrome

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