Clinical and research tests for 610550 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
46,XX gonadal dysgenesis (sequence analysis of FSHR gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
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 Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
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 Labcorp Genetics (formerly Invitae) LabCorp United States	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated Methionine Panel Labcorp Genetics (formerly Invitae) LabCorp United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Labcorp Genetics (formerly Invitae) LabCorp 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
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region

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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.