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qGenEx Mendeliome
Clinical Genetic Test
Help
offered by
Quantitative Genomic Medicine Laboratories, SL
View lab's test page
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GTR Test Accession: Help GTR000568286.1
NERVOUS SYSTEM
Last updated in GTR: 2019-07-19
View version history
Last annual review date for the lab: 2020-01-23 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Global developmental delay
Genes (3): Help
ACSL4 (Xq23), ALDH5A1 (6p22.3), L2HGDH (14q21.3)
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
This study has been performed by Quantitative Genomic Medicine Laboratories, …
Clinical utility: Help
Not provided
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
  • Licensed Physician
  • Physician Assistant
Test Order Code: Help
123456
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
To order a test it must be filled in the service request form (in PDF format) that can be downloaded directly from the website and edited. Once completed, it shall be send along with the sample to analyze. We process DNA or another biological samples (pre and postnatal, see details …
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Order URL
Test service: Help
Confirmation of research findings
    Comment: contact our team
Custom Deletion/Duplication Testing
    OrderCode: qChip
Genetic counseling
    Comment: contact our team
Identity Testing
    OrderCode: qCell Identity
Whole Exome Sequencing
    OrderCode: qGenEx
Carrier testing
    OrderCode: qCarrier
Uniparental Disomy (UPD) Testing
    Comment: contact our team
Test additional service: Help
Custom Prenatal Testing
    OrderCode: qChip Pre
Custom mutation-specific/Carrier testing
    OrderCode: qCarrier
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
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)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
This study has been performed by Quantitative Genomic Medicine Laboratories, SL (qGenomics) a laboratory accredited to the ISO15189 standard by ENAC, with accreditation number 1286/LE2415 (see accredited genes in previous sections), for the purpose of clinical diagnosis.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
We interpret and report the patogenic, benign and VUS variants according to the array guidelines and recommendations following the American Collegue of Medical Genetics.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. We re-evaluate prior interpretations while generating new reports. If a new syndrome or new genes have been described in the altered region of a previous report, we generate a new report and contact to the clinician.
Recommended fields not provided:
Clinical utility, Target population, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Confirmation: Help
Upon request using custom Sanger sequencing.
Test Comments: Help
Detection of mutations in exon portions of over 3000 genes, related to human disorders (mostly OMIM genes).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test uses next generation sequencing technology. It is known that this technology has a high sensitivity and specificity (>99%) for single nucleotide variation (SNVs) and small indels of up to 9 nucleotides. For genes in which only coding regions are sequenced, deletions and duplications affecting a single complete exon … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No

Description of PT method: Help
This study has been performed by Quantitative Genomic Medicine Laboratories, SL (qGenomics) a laboratory accredited to the ISO15189 standard by ENAC, with accreditation number 1286/LE2415 (see accredited genes in previous sections), for the purpose of clinical diagnosis.
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.