qChip 60k prenatal
GTR Test Accession: Help GTR000521292.3
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2020-01-13
Last annual review date for the lab: 2020-01-23 Past due LinkOut
At a Glance
Diagnosis
Chromosome 1p36 deletion syndrome; 11p partial monosomy syndrome; 11q partial monosomy syndrome; ...
10p13-p14; 10q23; 10q24; 11p11.2; 11p13; ...
ADGRG1 (16q21), AHI1 (6q23.3), ANOS1 (Xp22.31), APC (5q22.2), APP (21q21.3), ...
Molecular Genetics - Deletion/duplication analysis: Microarray
Detection of deletions and duplications with comparative array hybridization with …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Quantitative Genomic Medicine Laboratories, SL
View lab's website
View lab's test page
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
Test service: Help
Custom Deletion/Duplication Testing
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
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
Target population: Help
Detection of deletions and duplications with comparative array hybridization with 60.000 probes.
Recommended fields not provided:
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:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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