DDC Clinic
Molecular Diagnostics Laboratory

Telephone: 440-632-5532
e-mail: lab@ddcclinic.org

Methods

Methods

DDC Clinic Molecular Diagnostics Laboratory offers diagnostic genetic testing for a wide variety of disorders. Our tests include DNA sequence analysis via Sanger sequencing and Next-Generation Sequencing (NGS), targeted mutation analysis and DNA copy number variation analysis by chromosomal microarray.

NEW! Exon Level Deletion and Duplication Analysis

Exon level deletion and duplication analysis is used to increase detection rates for all testing offered by DDC Clinic Molecular Diagnostics Laboratory. Utilizing highly sensitive microarray technology, testing of exon level copy number changes is possible for the entire genome. This technology is available to enhance detection rates for all NGS Panels offered at DDC Clinic Molecular Diagnostics Laboratory, as well as provide deletion and duplication analysis for any gene as requested. Learn more about our Deletion/Duplication analysis.

This highly sensitive microarray technology consists of copy number probes as well as Single Nucleotide Polymorphism (SNP) probes. The copy number probes enable detection of exon level copy number changes. The SNP probe genotyping allows detection of regions of homozygosity, which may represent uniparental disomy (UPD), or regions of genome identical by descent (IBD). Please see our Test Information Sheet for more details.

Next-Generation Sequencing

NGS is used to sequence our gene panels and for almost all single gene sequencing requests. The coding regions and splice sites are completely sequenced in this test. Sanger sequencing is used to fill in gaps with insufficient coverage for the targeted genes. All clinically significant and novel variants are confirmed by Sanger sequencing as needed.

Sanger Sequencing

Sanger Sequencing is used to fully sequence several individual genes. For tests performed by NGS, all clinically significant and novel variants and areas of low coverage will be confirmed by Sanger sequencing as needed.

Sanger Sequencing is also used to perform targeted mutation tests offered specifically for the Old Order Amish and Mennonite population and used for known familial mutation (KFM) analysis for variants initially detected in our lab. Contact us to discuss availability of KFM analysis for variants initially detected in other laboratories.

Chromosomal Microarray

Whole-genome Chromosomal Microarray (CMA) is performed using the Affymetrix CytoScan HD array platform. This microarray consists of copy number probes and single nucleotide polymorphism (SNP) probes. The copy number probes enable detection of chromosomal aneuploidies and intrachromosomal deletions and duplications. The SNP probe genotyping allows detection of large blocks of homozygosity, which may represent uniparental disomy (UPD), or regions of genome identical by descent (IBD).

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