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Whole Exome Sequencing
Clinical Genetic Test
Help
offered by
Bioarray
View lab's test page
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GTR Test Accession: Help GTR000591900.1
METABOLIC DISEASENERVOUS SYSTEMDYSMORPHOLOGY ... View more
Registered in GTR: 2020-10-08
View version history
Last annual review date for the lab: 2024-07-23 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (6): Help
Developmental anomaly of metabolic origin; Developmental delay; Epilepsy more...
Analytes (1): Help
exome
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Bioarray
View lab's website
View lab's test page
Test short name: Help
WES
Specimen Source: Help
  • Isolated DNA
  • Whole blood in EDTA tube
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
luis.valino@bioarray.es
+(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:
Test Order Code, Test strategy, Test development
Conditions Help
Total conditions: 6
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Vissers LELM, van Nimwegen KJM, Schieving JH, Kamsteeg EJ, Kleefstra T, Yntema HG, Pfundt R, van der Wilt GJ, Krabbenborg L, Brunner HG, van der Burg S, Grutters J, Veltman JA, Willemsen MAAP. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017;19(9):1055-1063. doi:10.1038/gim.2017.1. Epub 2017 Mar 23. PMID: 28333917.

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
Yes.
Recommended fields not provided:
Clinical validity, Target population, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Technical sensitivity: > 99.6%
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:
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
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.