Whole Exome Sequencing-XL

Whole exome sequencing–XL (WES-XL) is a comprehensive, phenotype-driven exome analysis using the patient’s genomic data. Identified variants may be confirmed via Sanger sequencing or qPCR if needed as determined by the specific variant called. The standard WES-XL includes a trio analysis (patient plus parents). Samples from can be submitted in place of a parental specimen or in addition to parental samples. (Please note that an additional cost may incur for submitting more than 2 family members in addition to the proband.) Singleton and duos will also be accepted if appropriate family members samples are not available. A separate consent and family studies form must be completed for each familial sample submitted in addition to the patient. Please contact the lab prior to sending a sibling sample.

Secondary findings will only be reported for the patient initially, and only mutations or variants that are expected to harm the function of the gene will be reported. Only SNV analysis will be performed for secondary findings. The patient and/or patient’s guardian has the option to receive or not to receive the information about the patient’s changes that are considered secondary findings. If the lab does not have clear consent to report secondary findings, this will not be included in the final report. If a secondary finding is identified, parents may then elect to have the finding confirmed at no additional charge.

Cytogenomic Microarray

The Cytogenomic Microarray provides genome-wide detection of copy number gains and losses. In addition to detection of copy number variations (CNVs), this SNP array also allows for the analysis of loss of heterozygosity (LOH) which can be useful in identifying uniparental disomy (UPD) as well as autozygosity (identity by descent).

Mitochondrial DNA Variant Panel

This targeted panel include 96 mitochondrial DNA variants with known phenotypes. Below is a list of variants which are considered in the analysis. The variant “m.7445A>G” is located at the boundary of two genes, MT-CO1 and MT-TS1, and is commonly considered as two variants.

GNAS Methylation-Specific MLPA

GNAS Methylation-Specific MLPA is a molecular test used to detect copy number variants and methylation abnormalities within the GNAS complex locus on chromosome 20q13.32.

STRC-Related Disorders: STRC Sequencing

STRC sequencing is a molecular test used to identify variants in the gene associated with STRC-related disorders including type 16 autosomal recessive deafness.

Mother and son

A Rare Beauty

The lobby of the JC Self Research Institute at GGC was transformed into a garden – of sorts. The art exhibit titled ‘Rare Roses’ consisted of 12 paintings that depict real roses with genetic variations. The series was created by Nicole Shannon, an artist from Greenville. Nicole was inspired by her son, who has a rare genetic disorder, and other individuals with genetic differences. Quinn, now 4, was born with a myriad of health issues and ...

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