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GTR Home > Tests > Chromosomal abnormalities

Overview

Test order codeHelp: 908404

Test name

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Chromosomal abnormalities

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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The requirements for each test are listed at www.genetix.com.co. For further questions, please contact us at genetix@genetix.com.co
Order URL Help: http://www.genetix.com.co/

Specimen source

Fresh tissue
Peripheral (whole) blood
Specimen requirements: http://www.genetix.com.co/

Methodology

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Cytogenetics
KKaryotyping
G-banding
  • Other

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. - PubMed ID: 17467974
  • Am J Hematol. 2013 Oct 26. doi: 10.1002/ajh.23618

Clinical validity

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20% of human dismorphic patients will have a chromosomal abnormality.

Citations
  • Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. - PubMed ID: 17467974
  • Am J Hematol. 2013 Oct 26. doi: 10.1002/ajh.23618

Testing strategy

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G banding Karyotype 000 The requirements for each test are listed at www.genetix.com.co. For further questions, please contact us at genetix@genetix.com.co

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling
  • Result interpretation

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.