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GTR Home > Tests > Chromosomal microarray

Overview

Test name

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Chromosomal microarray

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Recurrence

Condition

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Click Indication tab for more information.

How to order

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Please contact the lab before sending the sample. Sample requirement: 3-5mL blood in each in green and purple top tubes or 2 X T25 confluent flasks of culture amniocytes or chorionic villus, at least 5ug good quality DNA
Order URL Help: http://www.chop.edu/centers-programs/division-genomic-diagnostics

Specimen source

Amniocytes
Chorionic villi
Cord blood
Fetal blood
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)
Saliva
Skin

Methodology

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Cytogenetics
MFISH-metaphase
Digital / Virtual karyotyping
KKaryotyping
G-banding
Molecular Genetics
DDeletion/duplication analysis
Microarray
HDetection of homozygosity
Microarray
UUniparental disomy study (UPD)
Microarray

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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

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.