SNP arrays

CNV-SNP arrays study

Cytogenetic studies using microarrays allow interrogating a large amount and variety of loci compared to classic techniques. Its great versatility and yield have led to its rapid implementation in the clinical environment.

Health in Code provides high-resolution microarray-based molecular cytogenetic services, combining the qualities of genotyping probes with probes for structural variant detection. Only in this way it is possible to detect non-balanced chromosomal abnormalities, uniparental disomy, loss of heterozygosity, etc. in a single assay.

In addition, the high probe density of our platform (>2.6 millions) guarantees a high sensitivity (>99%) and resolution (up to 25kb), making it possible to bridge the gap between the approaches of molecular genetics and classic cytogenetics.

With SNP-array analysis, it is possible to analyze over 290 microdeletion/microduplication syndromes.

Study requisition form
Informed consent
Estudio CNV-SNP arrays

Cytogenetic studies using microarrays allow interrogating a large amount and variety of loci compared to classic techniques. Its great versatility and yield have led to its rapid implementation in the clinical environment.

Health in Code provides high-resolution microarray-based molecular cytogenetic services, combining the qualities of genotyping probes with probes for structural variant detection. Only in this way it is possible to detect non-balanced chromosomal abnormalities, uniparental disomy, loss of heterozygosity, etc. in a single assay.

In addition, the high probe density of our platform (>2.6 millions) guarantees a high sensitivity (>99%) and resolution (up to 25kb), making it possible to bridge the gap between the approaches of molecular genetics and classic cytogenetics.

With SNP-array analysis, it is possible to analyze over 290 microdeletion/microduplication syndromes.

Informed consent

INDICATION:

  1. It is considered a first-line study for postnatally evaluated individuals
    • Multiple non-specific congenital anomalies, and/or
    • Mental retardation/Intellectual disability

ADVANTAGES:

  1. Analyzing DNA in virtually every tissue, including non-cultured tissue.
  2. Detection of cytogenetic abnormalities not detected by conventional analyses.
  3. Determining breakage points in chromosomal rearrangements.
  4. Detection of loss of heterozygosity (SNP arrays only).

LIMITATIONS:

  1. It does not detect balanced chromosomal rearrangements (balanced translocations or inversions); however, it can determine if rearrangements present losses or gains at breakage points.
  2. Low-level mosaicism.
  3. Triploidies, tetraploidies or other levels of polyploidies and some aneuploidies such as XYY.
  4. CNV for genomic regions not covered by the platform.
  5. The level of detection depends of the study density.
  6. It does not detect point mutations, gene expression, or methylation analysis.
  7. Trisomy secondary to a translocation (trisomies 13 and 21).
  1. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. South ST, Lee C, Lamb AN, Higgins AW, Kearney HM; Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. Genet Med. 2013 Nov; 15(11):901-9.
  2. Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Manning M, Hudgins L; Genet Med. 2010 Nov; 12(11):742-5.
  3. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, et al. Am J Hum Genet. 2010 May 14; 86(5):749-64.
  4. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Edelmann L, Hirschhorn K. Ann NY Acad Sci 2009; 1151:157- 166.
  5. Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Coughlin, C. R. II, et al., Genome Medicine 4:80 (2012).
  6. Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities. Mason-Suares H, et al. Genet Med. 2013 Sep; 15(9):706-12.

In cases of multiple congenital malformations, mental retardation, and/or autism, diagnosis rate is 19%3.

Different studies have demonstrated that up to 20%-41% of individuals with balanced translocations present losses or gains of genetic material at breakage points.

Este sitio web utiliza cookies para que usted tenga la mejor experiencia de usuario. Si continúa navegando está dando su consentimiento para la aceptación de las mencionadas cookies y la aceptación de nuestra política de cookies, pinche el enlace para mayor información.

ACEPTAR
Aviso de cookies