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whole-genome array comparative genomic hybridization (cgh) and single-nucleotide polymorphism (snp) analysis  (GeneDx Inc)

 
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    GeneDx Inc whole-genome array comparative genomic hybridization (cgh) and single-nucleotide polymorphism (snp) analysis
    Whole Genome Array Comparative Genomic Hybridization (Cgh) And Single Nucleotide Polymorphism (Snp) Analysis, supplied by GeneDx Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/array+cgh+analysis/clinical+microarray+services/pmc11546576-153-7-11
    Average 90 stars, based on 1 article reviews
    whole-genome array comparative genomic hybridization (cgh) and single-nucleotide polymorphism (snp) analysis - by Bioz Stars, 2026-09
    90/100 stars

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    Related Articles

    Hybridization:

    Article Title: Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
    Article Snippet: Where indicated whole-genome oligonucleotide array comparative genome hybridisation (CGH)+SNP analysis was performed by GeneDx using 180 000 oligonucleotide probes on blood DNA samples.

    Article Title: A familial case of CAMK2B mutation with variable expressivity
    Article Snippet: Combined comparative genomic hybridization and single nucleotide polymorphism (CGH + SNP) array analysis, and a comprehensive epilepsy gene panel containing 87 genes (GeneDx, Test code #523) were all normal; therefore, whole exome sequencing (WES) was performed (GeneDx, Gaithersburg, MD, USA).

    Sequencing:

    Article Title: Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
    Article Snippet: Where indicated whole-genome oligonucleotide array comparative genome hybridisation (CGH)+SNP analysis was performed by GeneDx using 180 000 oligonucleotide probes on blood DNA samples.

    Article Title: A familial case of CAMK2B mutation with variable expressivity
    Article Snippet: Combined comparative genomic hybridization and single nucleotide polymorphism (CGH + SNP) array analysis, and a comprehensive epilepsy gene panel containing 87 genes (GeneDx, Test code #523) were all normal; therefore, whole exome sequencing (WES) was performed (GeneDx, Gaithersburg, MD, USA).



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    Image Search Results


    A) Result of array-CGH analysis of chromosome 2 with Agilent Human Genome CGH microarray Kit G3 400 in patient 1. The 1.914 Mb interstitial q37.1 deleted region of chromosome 2 extends between oligomers A_18_P13670199 (231,264,956 bp) and A_16_P00618306 (233,178,325 bp) flanked by oligomers A_16_P00615757 (231,257,468 bp) and A_16_P00618312 (233,181,399 bp) (UCSC Genome Browser, http://genome.ucsc.edu/ ; February 2009). B) FISH with BAC clones RP11-395A23 (AC010149) (chr2:231,304,236–231,476,367). The arrowhead indicates the deleted chromosome 2. D) Result of array-CGH analysis of chromosome 2 with Agilent Human Genome CGH microarray Kit G3 400 in patient 2. The 4.515 Mb interstitial deletion at bands q37.1q37.3 of chromosome 2 was comprised between oligomers A_16_P16076619 (232,963,736 bp) and A_16_P36124457(237,479,062 bp) flanked by oligomers A_16_P16076610 (232,954,321 bp) and A_16_P36124475 (237,483,914 bp). C) FISH with RP11-485M18 (AC079400)(chr2:236,766,818-236,919,215). The arrowhead shows the deleted chromosome 2.

    Journal: PLoS ONE

    Article Title: Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations

    doi: 10.1371/journal.pone.0066048

    Figure Lengend Snippet: A) Result of array-CGH analysis of chromosome 2 with Agilent Human Genome CGH microarray Kit G3 400 in patient 1. The 1.914 Mb interstitial q37.1 deleted region of chromosome 2 extends between oligomers A_18_P13670199 (231,264,956 bp) and A_16_P00618306 (233,178,325 bp) flanked by oligomers A_16_P00615757 (231,257,468 bp) and A_16_P00618312 (233,181,399 bp) (UCSC Genome Browser, http://genome.ucsc.edu/ ; February 2009). B) FISH with BAC clones RP11-395A23 (AC010149) (chr2:231,304,236–231,476,367). The arrowhead indicates the deleted chromosome 2. D) Result of array-CGH analysis of chromosome 2 with Agilent Human Genome CGH microarray Kit G3 400 in patient 2. The 4.515 Mb interstitial deletion at bands q37.1q37.3 of chromosome 2 was comprised between oligomers A_16_P16076619 (232,963,736 bp) and A_16_P36124457(237,479,062 bp) flanked by oligomers A_16_P16076610 (232,954,321 bp) and A_16_P36124475 (237,483,914 bp). C) FISH with RP11-485M18 (AC079400)(chr2:236,766,818-236,919,215). The arrowhead shows the deleted chromosome 2.

    Article Snippet: Considering the phenotypic abnormalities of the patients, array CGH analysis (Agilent G3 400 K) was performed.

    Techniques: Microarray, Clone Assay