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qGenEx Intellectual disability
Clinical Genetic Test
Help
offered by
Quantitative Genomic Medicine Laboratories, SL
GTR Test Accession: Help GTR000570118.2
NERVOUS SYSTEMPSYCHIATRICINHERITED DISEASE ... View more
Last updated in GTR: 2024-10-31
View version history
Last annual review date for the lab: 2024-10-31 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (3): Help
Autosomal dominant non-syndromic intellectual disability; Autosomal recessive non-syndromic intellectual disability; Intellectual disability
Genes (1969): Help
A2M (12p13.31); A2ML1 (12p13.31); AAAS (12q13.13); AARS1 (16q22.1); AASS (7q31.32) more...
Methods (2): Help
Molecular Genetics - Mutation scanning of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals with intellectual disability
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Quantitative Genomic Medicine Laboratories, SL
View lab's website
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Buccal swab
  • Buffy coat
  • Cell culture
  • Cell-free DNA
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Isolated DNA
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • Skin
  • White blood cell prep
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
Test Order Code: Help
160254
View other test codes
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
Custom Deletion/Duplication Testing
    OrderCode: qChip
Genetic counseling
Identity Testing
    OrderCode: qCell Identity
Whole Exome Sequencing
    OrderCode: qGenEx
Uniparental Disomy (UPD) Testing
Test additional service: Help
Custom Prenatal Testing
    OrderCode: qChip Pre
Custom mutation-specific/Carrier testing
    OrderCode: qCarrier
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1969
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Mutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Individuals with intellectual disability
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 validity, Clinical utility, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: 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 … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
sensitivity >96%, specificity >99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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