Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000557854.4
Last updated in GTR: 2019-10-02
Last annual review date for the lab: 2023-09-11 LinkOut
At a Glance
Mutation Confirmation; Pre-symptomatic; Diagnosis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Amyotrophic lateral sclerosis type 1; Amyotrophic lateral sclerosis type 10; ...
ANG (14q11.2), C9orf72 (9p21.2), CHCHD10 (22q11.23), CHMP2B (3p11.2), DCTN1 (2p13.1), ...
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; ...
Not provided
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Ordering Information
Offered by: Help
Laboratorio de Genetica Clinica SL
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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: 14
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 17
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Mutation Confirmation; Pre-symptomatic; Diagnosis
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
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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