GTR Home > Tests > Rapid microarray (CGH and SNP)

Overview

Test order codeHelp: 100

Test name

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Rapid microarray (CGH and SNP)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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247 conditions tested. Click Indication tab for more information.

How to order

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For specimen requirements and handling instructions please visit: https://www.allelediagnostics.com/ordering/sample-requirements/. Allele Diagnostics accepts samples Monday-Saturday excluding some holidays. Contact Allele Diagnostics regarding holiday schedules. Please include a complete copy of the appropriate Allele Diagnostics Requisition form: https://www.allelediagnostics.com/ordering/requisition/. Our secure on-line portal allows providers the option of both placing test orders and receiving reports securely on-line.
Order URL Help: https://www.allelediagnostics.com/ordering/order-test/

Specimen source

Buccal swab
Cell culture
Cord blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)
Skin

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Microarray
HDetection of homozygosity
SNP Detection

Summary of what is tested

173 genes and variants, 67 chromosomal regions. Click Methodology tab for more information.

Genes

Chromosomal regions/Mitochondria

  • 1p36
  • 1q41-q42
  • 1q44
  • 1q21.1-q21.2
  • 1q21.1
  • 2p21
  • 2p15-p16.1
  • 2q33.1
  • 2q31.1
  • 2q31.1
  • 2q23.1
  • 2q31.1
  • 3q29
  • 3q23-q25.1
  • 3q29
  • 4p16.3
  • 5p15.2-p15.33
  • 6p25.3
  • 6q24-q25
  • 6q16.1-q16.3
  • 6q25.2-q25.3
  • 7q11.23
  • 8p23.1
  • 8q23.3 8q24.11
  • 8q22.1
  • 9p24.3
  • 9q22.32-q22.33
  • 10p14
  • 11q23-q25
  • 12p
  • 14q13.1-q13.3
  • 15q26.1-q26.3
  • 15q13.3
  • 15q11.2
  • 15q11.2
  • 15q11-q13
  • 15q24.1-q24.2
  • 16p13.3
  • 16p11.2-p12.2
  • 16p12.2
  • 16p13.3
  • 16p11.2
  • 17p11.2
  • 17p13.1
  • 17q23.1-q23.2
  • 17q12
  • 17q21.31
  • 17q21.31
  • 19q13.11
  • 21q22.3
  • 22q11.1-q11.21
  • 22q11.21
  • 22q13.3
  • 22q11.2
  • Xp11.22
  • Xp11.22-p11.23
  • Xp11.23-p11.3
  • Xq28
  • Chromosome 13
  • Chromosome 13
  • Chromosome 18
  • Chromosome 18
  • Chromosome 21
  • Chromosome 21
  • Human genome
  • Sex chromosome X
  • Sex chromosome Y

Clinical utility

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Guidance for management

Citations
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. - PubMed ID: 20962661
  • Clinical utility of chromosomal microarray analysis. - PubMed ID: 23071206

Establish or confirm diagnosis

Citations
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. - PubMed ID: 20962661
  • Clinical utility of chromosomal microarray analysis. - PubMed ID: 23071206

Clinical validity

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Not provided

Testing strategy

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After identification of a copy number gain or loss, FISH confirmation/visualization is attempted for majority of findings if specimen is adequate. 000 For specimen requirements and handling instructions please visit: https://www.allelediagnostics.com/ordering/sample-requirements/. Allele Diagnostics accepts samples Monday-Saturday excluding some holidays. Contact Allele Diagnostics regarding holiday schedules. Please include a complete copy of the appropriate Allele Diagnostics Requisition form: https://www.allelediagnostics.com/ordering/requisition/. Our secure on-line portal allows providers the option of both placing test orders and receiving reports securely on-line.

Test services

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  • Custom Deletion/Duplication Testing

Clinical resources

Practice guidelines

  • ESHG/ASHG, 2015
    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
  • NSGC, 2013
    Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors.
  • ACMG, 2013
    ACMG statement on noninvasive prenatal screening for fetal aneuploidy.
  • ICFMM, 2013
    Position Statement from the Italian College of Fetal Maternal Medicine: Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencing.
  • NSGC, 2013
    NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

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.

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