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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

PGmax™ - Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only) Panel

PreventionGenetics, part of Exact Sciences
United States
101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

urine organic acid profile, qualitative

IU Genetic Testing Laboratories Indiana University School of Medicine
United States
31
  • A Analyte

Amino acid, urine, quantitative

IU Genetic Testing Laboratories Indiana University School of Medicine
United States
1141
  • A Analyte

Amino acid, plasma, quantitative

IU Genetic Testing Laboratories Indiana University School of Medicine
United States
834
  • A Analyte

Amino Acid, Quantitative, Urine

Biochemical Genetics Laboratory LabCorp
United States
22
  • A Analyte

Amino Acid, Quantitative, Cerebral Spinal Fluid

Biochemical Genetics Laboratory LabCorp
United States
21
  • A Analyte

Amino Acid, Quantitative, Plasma

Biochemical Genetics Laboratory LabCorp
United States
31
  • A Analyte

Organic Acid Analysis, Urine

Biochemical Genetics Laboratory LabCorp
United States
41
  • A Analyte

Phenylketonuria/ Hyperphenylalaninemia, non-PKU mild (PAH)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
21
  • A Analyte
  • C Sequence analysis of the entire coding region

Invitae Elevated Tyrosine (Tyrosinemia) Panel

Invitae
United States
53
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Amino Acids

Biochemical Genetics Laboratory University of California San Diego
United States
51
  • A Analyte

Results: 1 to 11 of 11

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.