Horizon 137
Clinical Genetic Test
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offered by
GTR Test Accession: Help GTR000569803.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2019-12-27
Last annual review date for the lab: 2024-01-25 LinkOut
At a Glance
Screening
3-phosphoglycerate dehydrogenase deficiency; 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency; Abetalipoproteinaemia; ...
ABCC8 (11p15.1), ABCD1 (Xq28), ACADM (1p31.1), ACADVL (17p13.1), ADA (20q13.12), ...
Molecular Genetics - Sequence analysis of select exons: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
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: 135
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 137
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
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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