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463 results
  1. Emanuel Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1263
    ... number of sequences can include karyotype , chromosomal microarray (CMA) , or targeted duplication analysis by fluorescence in situ ... carrier , targeted duplication analysis (e.g., FISH ) or CMA should be performed in the proband to identify ...
  2. SATB2-Associated Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK458647
    ... 1 deletion are likely to be diagnosed using CMA and individuals with a pathogenic variant detectable by ... Recommended First-Tier Genomic Testing Chromosomal microarray analysis (CMA ) using oligonucleotide or SNP arrays is recommended first ...
  3. 1q21.1 Recurrent Microdeletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK52787
    ... copy number of sequences can include chromosomal microarray (CMA) or targeted deletion analysis by fluorescence in situ ... or other conventional cytogenetic banding techniques. Chromosomal microarray (CMA) using oligonucleotide arrays or SNP genotyping arrays can ...
  4. 15q13.3 Microdeletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK50780
    ... copy number of sequences can include chromosomal microarray (CMA) or targeted deletion analysis by fluorescence in situ ... or other conventional cytogenetic banding techniques. Chromosomal microarray (CMA) using oligonucleotide arrays or SNP genotyping arrays can ...
  5. Koolen-de Vries Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK24676
    ... approaches can include a combination of chromosomal microarray (CMA) , single- gene testing , a multigene panel , and comprehensive ... sequencing , exome array , genome sequencing ). Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome- ...
  6. 16p11.2 Recurrent Microdeletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK11167
    ... copy number of sequences can include chromosomal microarray (CMA) or targeted deletion analysis by fluorescence in situ ... or other conventional cytogenetic banding techniques. Chromosomal microarray (CMA) using oligonucleotide arrays or SNP genotyping arrays can ...
  7. Nonsyndromic 46,XX Testicular Disorders of Sex Development - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1416
    ... hybridization ( FISH ) for SRY and/or chromosomal microarray (CMA) . FISH for SRY . This is a standard test ... in or around SOX9 or SOX3 . Chromosome microarray (CMA) can detect SRY and copy number variants or ...
  8. 22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1523
    ... copy number of sequences can include chromosomal microarray (CMA) or targeted deletion analysis. Note: The 22q11.2 ... banded chromosomes or other conventional cytogenetic banding techniques. CMA using oligonucleotide or SNP arrays can detect the ...
  9. 7q11.23 Duplication Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK327268
    ... copy number of sequences can include chromosomal microarray (CMA) or targeted duplication analysis by fluorescence in situ ... or other conventional cytogenetic banding techniques. Chromosomal microarray (CMA) using oligonucleotide arrays or SNP genotyping arrays can ...
  10. Saethre-Chotzen Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1189
    ... can include single- gene testing , chromosomal microarray analysis (CMA) , or use of a multigene panel . Single- gene ... detect intragenic deletions or duplications. Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome- ...
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