Clinical and research tests for C0268621 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma Mayo Clinic Laboratories Mayo Clinic United States	7	6	A Analyte
MAT1A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	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	1	1	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	1	1	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	1	1	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	1	1	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	34	39	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	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated Methionine Panel Invitae United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Invitae United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypermethioninemia Panel PreventionGenetics, part of Exact Sciences United States	4	4	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	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amino Acid Analysis - Plasma Baylor Genetics United States	25	26	A Analyte
Brain demyelination due to methionine adenosyltransferase deficiency Bioarray Spain	1	1	C Sequence analysis of the entire coding region
MAT1A Gene Sequencing GeneDx United States	1	1	C Sequence analysis of the entire coding region
MAT1A Institute of Human Genetics Medical University Innsbruck Austria	1	1	S Mutation scanning of the entire coding region

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