GeneSeq PLUS, Fetal Analysis
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000604240.2
Last updated in GTR: 2023-09-24
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Carnitine palmitoyltransferase II deficiency; 3-M syndrome; 3-Methylglutaconic aciduria type 2; ...
AAAS (12q13.13), ABCA12 (2q35), ABCA3 (16p13.3), ABCB11 (2q31.1), ABCB4 (7q21.12), ...
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
Integrated Genetics Westborough
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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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Conditions Help
Total conditions: 292
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 597
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
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Technical Information
Test Comments: Help
Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity at 30X coverage is estimated to be >99% for single nucleotide variants, >99% for insertions/deletions less than six base pairs and >96% for insertions/deletions between six and forty-five base pairs.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
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Regulatory Approval
FDA Review: Help
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Additional Information

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