The University of Chicago Genetic Services is a leader in providing clinical genetic testing for Cornelia de Lange syndrome (CdLS). Working closely with both key researchers in the CdLS field and the Cornelia de Lange Syndrome Foundation (a leading family support organization), UCGS has been providing clinical genetic testing for CdLS for over six years. Our depth of knowledge and experience with this condition is unparalleled. We are now pleased to offer testing for three additional genes for CdLS (SMC3, RAD21 and HDAC8) as well as a revised CdLS testing strategy.
To maximize clinical sensitivity and minimize cost to our patients, our Cornelia de Lange syndrome series employs testing of NIPBL, SMC1A, SMC3, RAD21 and HDAC8 in a sequential manner:
Tier 1 is mutation analysis of all coding exons and intron/exon boundaries of NIPBL by Sanger sequencing, as well as NIPBL deletion/ duplication analysis by oligonucleotide array-CGH. Point mutations and intragenic deletions have been reported in up to 50% of patients with a clinical diagnosis of CDLS [1,2].
Tier 2 is mutation analysis of all coding exons and intron/exon boundaries of SMC1A by Sanger sequencing, as well as SMC1A deletion/ duplication analysis by oligonucleotide array-CGH. Mutations in SMC1A account for approximately 5% of patient with CdLS [3].
Tier 3 is sequence analysis of all coding exons and intron/exon boundaries of the SMC3, RAD21 and HDAC8 genes. Collectively, mutations in these genes account for approximately 4% of patients with CdLS [3,4,5].
For those patients who have previously had NIPBL and SMC1A testing, our Tier 3 panel (SMC3, RAD21, HDAC8 sequencing) can also be ordered separately. And as always NIPBL and SMC1A sequencing and deletion/duplication analysis can also be ordered separately.
We are excited to bring these and other new tests to your patients and families. Let us know if there are other tests that you would like to see offered. Please refer to our website dnatesting.uchicago.edu or contact us for more information.
