Chromosomal Microarray
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000591901.1
Registered in GTR: 2020-10-08
Last annual review date for the lab: 2024-07-23 LinkOut
At a Glance
Diagnosis
Congenital chromosomal disease
Molecular Genetics - Deletion/duplication analysis: Microarray
Not provided
Not provided
Establish or confirm diagnosis
Ordering Information
Test short name: Help
CMA
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Isolated DNA
  • Whole blood in EDTA tube
  • Product of conception (POC)
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Luis Valino-Castrillon, BSc, Administrator
[email protected]
+(34)-966682500
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 refer to http://www.bioarray.es/envio-de-muestras for test requisition and informed consent forms. Please send sample (whole blood in EDTA tube or isolated DNA) along with forms and proof of payment to the indicated address.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    Comment: Confirmation of mutations by Sanger is included
Result interpretation
    Comment: Result interpretation is always included
Informed consent required: Help
Yes
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: 1
Condition/Phenotype Identifier
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Microarray
Affymetrix GeneChip Scanner 3000 7G Whole-Genome Association System
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Chromosomal microarrays: influential players in the diagnosis of developmental disorders. Toruner GA, et al. Per Med. 2012;9(2):167-169. doi:10.2217/pme.11.100. PMID: 29758808.

Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Platform:
Affymetrix CytoScan HD Array, Affymetrix Genome-Wide Human SNP Array 6.0, Agilent SurePrint G3 Human CGH Microarray Kit, 2x400K
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity: > 98.21%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
EQA

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
Practice guidelines:
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.