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qChip 1M
Clinical Genetic Test
Help
offered by
Quantitative Genomic Medicine Laboratories, SL
View lab's test page
LinkOut
GTR Test Accession: Help GTR000570009.1
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2020-01-13
View version history
Last annual review date for the lab: 2020-01-23 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (184): Help
Chromosome 1p36 deletion syndrome; 11p partial monosomy syndrome; 11q partial monosomy syndrome; ...
Chromosomal regions/ Mitochondria (36): Help
10p13-p14; 10q23; 10q24; 11p11.2; 11p13; ...
Genes (126): Help
ADGRG1 (16q21), AHI1 (6q23.3), ANOS1 (Xp22.31), APC (5q22.2), APP (21q21.3), ...
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Microarray
Target population: Help
Detection of deletions and duplications with comparative hybridization technique with …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Quantitative Genomic Medicine Laboratories, SL
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Test Order Code: Help
150670
Lab contact: Help
Olaya Villa, PhD, Staff
olaya.villa@qgenomics.com
+34 932301270
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
Order URL
Test service: Help
Custom Deletion/Duplication Testing
    OrderCode: qChip 1M
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test strategy, Test development
Conditions Help
Total conditions: 184
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 36
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 126
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
Microarray
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Detection of deletions and duplications with comparative hybridization technique with 1 million probes.
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Available
Test Platform:
Agilent SurePrint G3 Human CGH Microarray custom design
Test Confirmation: Help
Available
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Under the parameters at which samples are analyzed, sensitivity and specificity for copy number variants in the target regions is +98%
Assay limitations: Help
Mosaic alterations lower than 30%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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.