GTR Home > Tests > ArrayCGH 400K

Overview

Test name

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ArrayCGH 400K (CMAHR)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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Medical request is required. Specimen types: total blood with EDTA or extracted DNA (amniocentesis; chorionic villus biopsy; product of conception)
Order URL Help: https://dle.com.br/

Specimen source

Amniocytes
Chorionic villi
Fetal blood
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)
Specimen requirements: https://dle.com.br/

Methodology

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Molecular Genetics
HDetection of homozygosity
Microarray

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders. - PubMed ID: 31398764

Clinical validity

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The methodology used allows the detection of CNVs larger than 50Kb. in regions clinically significant there is a higher density of probes (ClinGen/OMIN), allowing the identification of CNVs larger than 25kb.

Citations

Not provided

Testing strategy

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High-resolution cytogenomic analysis platform to search for variations in copy number (CNV) and large regions of loss of heterozygosity (LOH). The methodology is based on comparative hybridization of patient DNA versus control DNA on a microarray slide with probes representative of clinically significant regions and SNPs. This platform has a higher concentration of probes in exonic regions of genes, increasing the ability to detect CNVs in single exons. For classification of changes and interpretation of results, CNV data obtained will be compared to changes already described in specialized databases. 000 Medical request is required. Specimen types: total blood with EDTA or extracted DNA (amniocentesis; chorionic villus biopsy; product of conception)

Test services

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  • Result interpretation
  • Custom Prenatal Testing

Clinical resources

Practice guidelines

  • NCCN, 2014
    Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.
  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • ISCA, 2010
    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
  • ACMG, 2008
    Statement on guidance for genetic counseling in advanced paternal age
  • ACMG, 2008
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders (See 2013 Update)
  • Retired; ACMG, 2005
    Retired. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.