Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000603947.1
Last updated in GTR: 2023-01-17
Last annual review date for the lab: 2023-09-11 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Predictive
Hereditary disease
AAAS (12q13.13), AARS1 (16q22.1), AARS2 (6p21.1), AASS (7q31.32), ABCA1 (9q31.1), ...
Molecular Genetics - Sequence analysis of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
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Ordering Information
Offered by: Help
Laboratorio de Genetica Clinica SL
View lab's website
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:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1202
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Predictive
Recommended fields not provided:
Technical Information
Test Comments: Help
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity for this assay is estimated to be >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
Practice guidelines:
Consumer resources:

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