Clinical and research tests for 606628 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RAG2 Gene Omenn syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
GNMT Gene Glycine N-methyltransferase deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
GNMT - 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	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
Glycine N-methyltransferase deficiency, 606664, Autosomal recessive (Hypermethioninemia due to glycine N-methyltransferase deficiency) (GNMT gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Glycine N-methyltransferase deficiency, 606664, Autosomal recessive (Hypermethioninemia due to glycine N-methyltransferase deficiency) (GNMT gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
GNMT - Glycine N-methyltransferase deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	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
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	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
Glycine N-Methyltransferase Deficiency via the GNMT 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
GNMT Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region
GNMT Prenatal Sequence Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons
GNMT Familial Mutation/Variant Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons

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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.