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X-chromosome High Resolution microarray analysis
Clinical Genetic Test
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offered by
Pittsburgh Cytogenetics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000507942.2
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2014-03-23
View version history
Last annual review date for the lab: 2024-05-22 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Conditions (240): Help
X chromosome deletion/duplication; 3-Methylglutaconic aciduria type 2; 46,XX sex reversal 1 more...
Chromosomal regions/ Mitochondria (11): Help
Sex chromosome X; Sex chromosome Y; Xp11; Xp11.3; Xp21 more...
Genes (160): Help
ABCB7 (Xq13.3); ABCD1 (Xq28); ACSL4 (Xq23); AFF2 (Xq28); AGTR2 (Xq23) more...
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization
Target population: Help
Individuals with suspected X-linked genetic disorder, developmental delay, intellectual disability, …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
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
X-HR
View other test codes
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 http://pittgenetics.com/
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:
Lab contact for this test, Test development
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
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
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
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.