qGenEx Craniofacial Anomalies
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000552865.2
Last updated in GTR: 2018-09-12
Last annual review date for the lab: 2020-01-23 Past due LinkOut
At a Glance
Ectopia lentis et pupillae; 3MC syndrome 1; ADULT syndrome; ...
ADAMTSL4 (1q21.2), ALX1 (12q21.31), ALX3 (1p13.3), ALX4 (11p11.2), AMELX (Xp22.2), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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Ordering Information
Offered by: Help
Quantitative Genomic Medicine Laboratories, SL
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Specimen Source: Help
Informed consent required: Help
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Pre-test genetic counseling required: Help
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Post-test genetic counseling required: Help
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Recommended fields not provided:
Conditions Help
Total conditions: 135
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 136
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 the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
specificity >90% sensibility >90%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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