JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY)
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000556901.2
INHERITED DISEASEMUSCULOSKELETALRESPIRATORY DISEASE ... View more
Last updated in GTR: 2018-10-01
Last annual review date for the lab: 2023-09-11 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic
Asphyxiating thoracic dystrophy 3; Asphyxiating thoracic dystrophy 2; Asphyxiating thoracic dystrophy 4; ...
Genes (5): Help
DYNC2H1 (11q22.3), IFT140 (16p13.3), IFT80 (3q25.33), TTC21B (2q24.3), WDR19 (4p14)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
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: 5
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic
Recommended fields not provided:
Technical Information
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
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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