Horizon 274 Plus TSE
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000569824.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2019-12-30
Last annual review date for the lab: 2024-01-25 LinkOut
At a Glance
Screening
3-phosphoglycerate dehydrogenase deficiency; 3 beta-Hydroxysteroid dehydrogenase deficiency; 3-Methylglutaconic aciduria type 3; ...
ABCB11 (2q31.1), ABCC8 (11p15.1), ABCD1 (Xq28), ACAD9 (3q21.3), ACADM (1p31.1), ...
Tay Sachs Enzyme
Biochemical Genetics - Enzyme assay: Enzymatic levels; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Test Order Code: Help
Horizon 274 Plus TSE
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: 265
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 274
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Proteins Help
Total proteins: 1
Protein Associated Condition
Methodology
Total methods: 4
Method Category Help
Test method Help
Instrument *
Enzyme assay
Enzymatic levels
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Trinucleotide repeat by PCR or Southern Blot
* Instrument: Not provided
Clinical Information
Test purpose: Help
Screening
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Test Sensitivity > 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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