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Chromosome Analysis,Amniotic Fluid w/rfl to Clarisure(R)Oligo-SNP,Prenatal
Clinical Genetic Test
Help
offered by
Quest Diagnostics Nichols Institute San Juan Capistrano
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GTR Test Accession: Help GTR000604124.3
CAP
Last updated in GTR: 2023-06-27
View version history
Last annual review date for the lab: 2023-07-07 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (3): Help
Maternal care for suspected chromosomal abnormality in fetus; Advanced maternal age gravida; Known OR suspected fetal abnormality affecting management of mother
Chromosomal regions/ Mitochondria (1): Help
Human genome
Methods (3): Help
Cytogenetics - Karyotyping: G-banding; ...
Target population: Help
Pregnancy
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Quest Diagnostics Nichols Institute San Juan Capistrano
View lab's website
View lab's test page
Specimen Source: Help
Test Order Code: Help
92704
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
http://www.questdiagnostics.com/
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Karyotyping
G-banding
Deletion/duplication analysis
Microarray
Detection of homozygosity
Microarray
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Pregnancy
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, 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
Test Platform:
Affymetrix CytoScan HD Array
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical specificity and sensitivity >99% at 6-8 Mb resolution for chromosomes. CytoScan HD Array has greater than 99% sensitivity and can reliably detect 25-20 kb copy number changes across the genome at high specificity with SNP (allelic) call corroboration.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, 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
Category: Not Applicable
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.