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clinical chromosomal microarray analysis (cma)  (Lineagen Inc)

 
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    Lineagen Inc clinical chromosomal microarray analysis (cma)
    Clinical Chromosomal Microarray Analysis (Cma), supplied by Lineagen 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/clinical+chromosomal+microarray+database/chromosomal+microarray+analysis/pm24700599-18-9-5
    Average 90 stars, based on 1 article reviews
    clinical chromosomal microarray analysis (cma) - by Bioz Stars, 2026-09
    90/100 stars

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    Related Articles

    Microarray:

    Article Title: A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome
    Article Snippet: .. Parental CMA assessing only the region of interest on chromosome 2 did not identify any CNVs, indicating that the patient's duplication is de novo. fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window Fig. 2 caption a7 Chromosomal microarray analysis showing the 69-kb interstitial duplication of chromosome 2q22.3 (chr2:145,218,807–145,287,401 with hg build 19) found in our patient performed by Lineagen, Inc. ZEB2 is partially duplicated in this region. fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window Fig. 3 caption a7 Diagram of the putative interstitial duplication within the ZEB2 locus encompassing exons 1 and 2 and intron 1 with part of intron 2 identified in our patient with Mowat-Wilson syndrome identified with high-resolution chromosomal microarray analysis. ..

    Article Title: A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits
    Article Snippet: Genetic testing ruled out several neurodevelopmental and neuromuscular diseases including Angelman syndrome, Prader-Willi syndrome, fragile X syndrome, Rett syndrome, spinal muscular atrophy, and myotonic dystrophy. .. A chromosomal microarray (Lineagen, Salt Lake City, UT) test performed at age 7 years revealed an interstitial deletion in chromosome 6q22.33: 129,669,542–129,734,572 (hg build 19), which includes the LAMA2 gene associated with merosin-deficient congenital muscular dystrophy (table). ..

    Article Title: A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits
    Article Snippet: Genetic testing ruled out several neurodevelopmental and neuromuscular diseases including Angelman syndrome, Prader-Willi syndrome, fragile X syndrome, Rett syndrome, spinal muscular atrophy, and myotonic dystrophy. .. A chromosomal microarray (Lineagen, Salt Lake City, UT) test performed at age 7 years revealed an interstitial deletion in chromosome 6q22.33: 129,669,542–129,734,572 (hg build 19), which includes the LAMA2 gene associated with merosin-deficient congenital muscular dystrophy ( ). ..

    Article Title: Academia, advocacy, and industry: a collaborative method for clinical research advancement.
    Article Snippet: The purpose of this article is to briefly share our particular experience (a collaboration between geneticists at the Universities of Minnesota and Utah, the 4p- Support Group, and Lineagen, Inc), review other similar projects, and formally propose this collaborative method as a conduit for future research which ultimately may lead to improved clinical care. .. In the spring of 2012, Lineagen performed its routine, clinical chromosomal microarray analysis (CMA) and telephone genetic counseling services for a youngman in his early 20s. ..

    Article Title: Clinical and Genetic Aspects of the 15q11.2 BP1-BP2 Microdeletion Disorder
    Article Snippet: .. However, genotyping and FISH techniques are not as powerful or informative as newly developed and validated high resolution SNP microarrays and use of bioinformatics with computer software programs produced to analyse the generated large genetic datasets (see ). fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window caption a7 Chromosomal microarray analysis showing the typical 15q11.2 BP1-BP2 microdeletion (red rectangle) involving chromosome 15 breakpoints BP1 and BP2 with loss of four genes ( TUBGCP5, CYFIP1, NIPA1, NIPA2 ) courtesy of Lineagen, Inc. (Salt Lake City, Utah). ..

    Article Title: Presented Abstracts from the Thirty Sixth Annual Conference of the National Society of Genetic Counselors (Columbus, OH, September 2017).
    Article Snippet: .. Fragile X syndrome testing and chromosomal microarray analysis (CMA) were ordered through Lineagen. ..

    Article Title: Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review
    Article Snippet: .. The copy number state represents the duplication identified by the chromosomal microarray analysis (performed by Lineagen Laboratory, Salt Lake City, Utah, United States) with the copy number state identified by the signals of copy number variant probes represented as dots found above the horizontal line indicating a duplication within the chromosome 19p13.3 band. ..

    Fluorescence In Situ Hybridization:

    Article Title: Clinical and Genetic Aspects of the 15q11.2 BP1-BP2 Microdeletion Disorder
    Article Snippet: .. However, genotyping and FISH techniques are not as powerful or informative as newly developed and validated high resolution SNP microarrays and use of bioinformatics with computer software programs produced to analyse the generated large genetic datasets (see ). fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window caption a7 Chromosomal microarray analysis showing the typical 15q11.2 BP1-BP2 microdeletion (red rectangle) involving chromosome 15 breakpoints BP1 and BP2 with loss of four genes ( TUBGCP5, CYFIP1, NIPA1, NIPA2 ) courtesy of Lineagen, Inc. (Salt Lake City, Utah). ..

    Software:

    Article Title: Clinical and Genetic Aspects of the 15q11.2 BP1-BP2 Microdeletion Disorder
    Article Snippet: .. However, genotyping and FISH techniques are not as powerful or informative as newly developed and validated high resolution SNP microarrays and use of bioinformatics with computer software programs produced to analyse the generated large genetic datasets (see ). fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window caption a7 Chromosomal microarray analysis showing the typical 15q11.2 BP1-BP2 microdeletion (red rectangle) involving chromosome 15 breakpoints BP1 and BP2 with loss of four genes ( TUBGCP5, CYFIP1, NIPA1, NIPA2 ) courtesy of Lineagen, Inc. (Salt Lake City, Utah). ..

    Produced:

    Article Title: Clinical and Genetic Aspects of the 15q11.2 BP1-BP2 Microdeletion Disorder
    Article Snippet: .. However, genotyping and FISH techniques are not as powerful or informative as newly developed and validated high resolution SNP microarrays and use of bioinformatics with computer software programs produced to analyse the generated large genetic datasets (see ). fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window caption a7 Chromosomal microarray analysis showing the typical 15q11.2 BP1-BP2 microdeletion (red rectangle) involving chromosome 15 breakpoints BP1 and BP2 with loss of four genes ( TUBGCP5, CYFIP1, NIPA1, NIPA2 ) courtesy of Lineagen, Inc. (Salt Lake City, Utah). ..

    Generated:

    Article Title: Clinical and Genetic Aspects of the 15q11.2 BP1-BP2 Microdeletion Disorder
    Article Snippet: .. However, genotyping and FISH techniques are not as powerful or informative as newly developed and validated high resolution SNP microarrays and use of bioinformatics with computer software programs produced to analyse the generated large genetic datasets (see ). fig ft0 fig mode=article f1 fig/graphic|fig/alternatives/graphic mode="anchored" m1 Open in a separate window caption a7 Chromosomal microarray analysis showing the typical 15q11.2 BP1-BP2 microdeletion (red rectangle) involving chromosome 15 breakpoints BP1 and BP2 with loss of four genes ( TUBGCP5, CYFIP1, NIPA1, NIPA2 ) courtesy of Lineagen, Inc. (Salt Lake City, Utah). ..

    Variant Assay:

    Article Title: Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review
    Article Snippet: .. The copy number state represents the duplication identified by the chromosomal microarray analysis (performed by Lineagen Laboratory, Salt Lake City, Utah, United States) with the copy number state identified by the signals of copy number variant probes represented as dots found above the horizontal line indicating a duplication within the chromosome 19p13.3 band. ..



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