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Results: 1 to 8 of 8

Tests names and labsConditionsGenes and analytesMethods

Glutamate formiminotransferase deficiency

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

Invitae Metabolic Disorders Newborn Screening Confirmation Panel

Invitae
United States
7865
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Organic Acidemias Panel

Invitae
United States
3431
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FTCD

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

devACT® Next Generation Sequencing panel focused on genes that inform actionable clinical management of patients with Developmental Delay, Intellectual Disability, and Autism Spectrum Disorders

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
297248
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Formiminotransferase Deficiency: FTCD Gene Deletion/Duplication

Emory Genetics Laboratory Emory University
United States
11
  • D Deletion/duplication analysis

Formiminotransferase Deficiency: FTCD Full Gene Sequencing

Emory Genetics Laboratory Emory University
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 8 of 8

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