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Results: 1 to 20 of 22 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Methionine adenosyltransferase deficiency, autosomal recessive

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

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel

PreventionGenetics
United States
2831
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypermethioninemia Sequencing Panel

PreventionGenetics
United States
33
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Methionine Adenosyltransferase I/III deficiency via the MAT1A Gene

PreventionGenetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MAT1A. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Amino Acid Analysis - Plasma

Baylor Miraca Genetics Laboratories
United States
2526
  • A Analyte

Invitae Elevated Methionine Panel

Invitae
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Metabolic Disorders Newborn Screening Confirmation Panel

Invitae
United States
11790
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain demyelination due to methionine adenosyltransferase deficiency

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

MAT1A Gene Sequencing

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

Methionine adenosyltransferase deficiency, AR (sequence analysis of MAT1A gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Dystonia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
7979
  • C Sequence analysis of the entire coding region

MAT1A

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

Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing (25 Genes) and Deletion/Duplication (24 Genes)

ARUP Laboratories, Molecular Genetics and Genomics
United States
2325
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MAT1A

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

Intellectual Disability NGS Panel

Fulgent Genetics
United States
752392
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cobalamin Homocysteine Methionine Deficiency NGS Panel

Fulgent Genetics
United States
2420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Methionine adenosyltrasnferase, deficiency: MAT1A gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 22

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.

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