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Results: 1 to 20 of 26

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma

Mayo Clinic Laboratories Mayo Clinic
United States
76
  • A Analyte

MAT1A - NGS including CNV analysis

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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850, Autosomal recessive, Autosomal dominant (Brain demyelination due to methionine adenosyltransferase deficiency) (MAT1A gene) (Sequence Analy

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850, Autosomal recessive, Autosomal dominant (Brain demyelination due to methionine adenosyltransferase deficiency) (MAT1A gene) (Sequence Analy

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Methionine adenosyltransferase deficiency-METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, autosomal recessive, 250850, Autosomal recessive, Autosomal dominant (Brain demyelination due to methionine adenosyltransferase deficiency) (MAT1A gene) (Sequence A

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Methionine adenosyltransferase deficiency-METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, autosomal recessive, 250850, Autosomal recessive, Autosomal dominant (Brain demyelination due to methionine adenosyltransferase deficiency) (MAT1A gene) (Sequence A

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel

PreventionGenetics, part of Exact Sciences
United States
3439
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Methylmalonic Acidemia and Homocystinuria Panel

Invitae
United States
2929
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated Methionine Panel

Invitae
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Metabolic Newborn Screening Confirmation Panel

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

Invitae Organic Acidemias Panel

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

Hypermethioninemia Panel

PreventionGenetics, part of Exact Sciences
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Methionine Adenosyltransferase I/III Deficiency via the MAT1A Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Amino Acid Analysis - Plasma

Baylor Genetics
United States
2526
  • A Analyte

Brain demyelination due to methionine adenosyltransferase deficiency

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

MAT1A

Institute of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 26

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.