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GTR Home > Tests > GeneSeq PLUS



Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Test comments


Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).

Test development


Not provided

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Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased C16 and/or C18:1 Acylcarnitine, Carnitine Palmitoyltransferase II (CPT II) Deficiency and Carnitine Acylcarnitine Translocase (CACT) Deficiency, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, C16 +/- C18:1 Elevated: CPT II or CACT, 2022

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