X-chromosome High Resolution microarray analysis
GTR Test Accession: Help GTR000507942.2
Last updated in GTR: 2014-03-23
Last annual review date for the lab: 2023-05-22 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Risk Assessment
X chromosome deletion/duplication; 3-Methylglutaconic aciduria type 2; 46,XX sex reversal 1; ...
Sex chromosome X; Sex chromosome Y; Xp11; Xp11.3; Xp21; ...
ABCB7 (Xq13.3), ABCD1 (Xq28), ACSL4 (Xq23), AFF2 (Xq28), AGTR2 (Xq23), ...
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization
Individuals with suspected X-linked genetic disorder, developmental delay, intellectual disability, …
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Ordering Information
Offered by: Help
Pittsburgh Cytogenetics Laboratory
View lab's website
View lab's test page
Test short name: Help
X-HR microarray
Specimen Source: Help
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
Test Order Code: Help
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Please call the lab Phone: (412)641-5558/(412)641-5559
Order URL
Informed consent required: Help
Decline to answer
Test strategy: Help
deletion/duplication, array comparative genomic hybridization
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 240
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 11
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 160
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Deletion/duplication analysis
Comparative Genomic Hybridization
Agilent SureSelect
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Target population: Help
Individuals with suspected X-linked genetic disorder, developmental delay, intellectual disability, multiple congenital anomalies, dysmorphic features, autistic spectrum disorder, behavioral abnormalities, and/or other features consistent with X chromosome contiguous gene deletion/duplication syndromes. Individuals with X chromosome structural abnormalities –deletions, duplications, ring, marker chromosome, X;autosome translocations. Female-carriers of X chromosome anomalies or … View more
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
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Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical validity for this analysis is ~99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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