NGS Panels

The current design of our Next-Generation Sequencing panels covers the coding region for all included genes as well as the flanking intronic sequences. This method allows for analysis of greater than 98% of the targeted sequence for the detection of nucleotide substitutions and small deletions and duplications. Large deletions and duplications will not be detected by this panel. Mutations and variants identified on the panel are confirmed with Sanger sequencing. All novel and apparently pathogenic changes are reported when found within the coding region as well as within 10 basepairs of each intron/exon boundary for each gene. Promoter and 3' untranslated sequences are not included in the current analysis. It should be noted that the current protocol is not specifically designed to detect copy number alterations and single exon deletions may require additional follow-up to determine whether or not they represent technical artifacts.

We recommend further array-based testing to more accurately address the concerns of dosage alterations. The Cytogenetic Laboratory at GGC offers a high resolution whole genome SNP microarray. The GGC Diagnostic Laboratory Directors and genetic counselors are available for further consultation regarding the limitations of the NGS and array testing procedures. Our currently offered NGS panels are listed below.

NGS Aortic Dysfunction or Dilation and Related Disorders Panel

NGS Bardet-Biedl Syndrome Panel

NGS Charcot-Marie-Tooth Hereditary Neuropathy Panel

NGS Coffin-Siris Syndrome Panel

NGS Comprehensive Cardiac Panel

NGS Brugada Syndrome Panel

NGS Dilated Cardiomyopathy (DCM)/Arrhythmogenic Cardiomyopathy Panel

NGS Hypertrophic Cardiomyopathy Panel

NGS Long QT Syndrome Panel

NGS Comprehensive Pulmonary Panel

NGS Arterial Hypertension Panel

NGS Hermansky-Pudlak and Pulmonary Fibrosis Panel

NGS Primary Ciliary Dyskinesia and Cystic Fibrosis Panel

NGS Surfactant Dysfunction and Respiratory Distress in Premature Infants Panel

NGS Cone-Rod Dystrophy Panel

NGS Congenital Contractures Panel

NGS Congenital Stationary Night Blindness Panel

NGS Connective Tissue Panel

NGS Cornelia de Lange Syndrome Panel

NGS Craniosynostosis Panel

NGS Epilepsy/Seizure Panel

NGS Hearing Loss Panel

NGS Hereditary Spastic Paraplegia Panel

NGS Leber Congenital Amaurosis Panel

NGS Lysosomal Storage Disease Panel

NGS Macular Degeneration Panel

NGS Mitochondrial Depletion Panel

NGS Neuromuscular Disorders Panel

NGS Neuronal Ceroid Lipofuscinoses Panel

NGS Non-immune Hydrops Panel

NGS Ocular Albinism and Hermansky-Pudlak Syndrome Panel

NGS Optic Atrophy and Early Glaucoma Panel

NGS Overgrowth/Macrocephaly Panel

NGS Peroxisome Biogenesis Disorders Panel

NGS RASopathy Panel

NGS Retinitis Pigmentosa Panel

NGS Rett/Angelman Syndrome 2nd Tier Sequencing Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel

NGS Skeletal Dysplasia Panel

NGS Syndromic Autism Panel

NGS Vascular Disorders Panel

NGS X-Linked Intellectual Disability (XLID) Panel

Specific collection and shipping instructions as well as billing information can be found on the individual pages for each test.

Effective January 1, 2017, all NGS panels are performed on an exome backbone with the potential for reflex to whole exome sequencing at a reduced cost. Please contact the laboratory to discuss the requirements for exome sequencing.

NGS Panel Requisition Form

Please submit a completed Requisition Form with all samples.


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Molecular Diagnostic Lab Faculty

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