U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

Results: 21 to 40 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated C3 Panel

Invitae
United States
1519
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Bone Marrow Failure Syndromes Panel

Invitae
United States
13885
  • D Deletion/duplication analysis

Invitae Organic Acidemias Panel

Invitae
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cobalamin Metabolism Panel (MitomeNGS)

Baylor Genetics
United States
109
  • C Sequence analysis of the entire coding region

TCN2 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TCN2 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

TCN2 Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region

TCN2 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Methylmalonic Acid - Plasma

Baylor Genetics
United States
91
  • A Analyte

Homocysteine Determination - Plasma

Baylor Genetics
United States
102
  • A Analyte

Methylmalonic Aciduria and Homocystinuria Panel

PreventionGenetics, part of Exact Sciences
United States
810
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Organic acidemia / Aciduria and cobalamin deficiency panel. NGS panel of 53 genes.

Genologica Medica
Spain
5353
  • C Sequence analysis of the entire coding region

TCN2 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency NGS Panel

Fulgent Genetics
United States
33090
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Transcobalamin Deficiency (TCN2 Single Gene Test)

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

Methylmalonic Aciduria and Homocystinuria

Asper Biogene Asper Biogene LLC
Estonia
2223
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 56

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.