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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

Postmortem Screening, Bile and Blood Spot

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • A Analyte

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

Acylcarnitine profile, plasma, quantitative

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

Invitae Metabolic Newborn Screening Confirmation Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
222160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Organic Acidemias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
11898
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Acylcarnitine Profile, Quantitative, Plasma

Biochemical Genetics Laboratory LabCorp
United States
31
  • A Analyte

Acylglycines, Quantitative Panel, Urine

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
11
  • A Analyte

Invitae Ketolysis Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
73
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Organic Acidemia/Aciduria & Cobalamin Deficiency Panel

Blueprint Genetics
Finland
653
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism Panel

Blueprint Genetics
Finland
14434
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated C5 Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Propionic Acidemia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

3-Methylcrotonylglycinuria: MCCC1/MCCC2 Sequencing

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
22
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.