Clinical and research tests for C1856057 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	107	96	C Sequence analysis of the entire coding region
MTRR - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis 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
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
Hyperammonemia Panel PreventionGenetics, part of Exact Sciences United States	66	63	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Homocystinuria-megaloblastic anemia, cbl E type, 236270, Autosomal recessive; HMAE (Methylcobalamin deficiency type cblE) (MTRR 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
Homocystinuria-megaloblastic anemia, cbl E type, 236270, Autosomal recessive; HMAE (Methylcobalamin deficiency type cblE) (MTRR 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
Invitae Hyperammonemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	75	72	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis 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 Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	222	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	118	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Homocystinuria Panel PreventionGenetics, part of Exact Sciences United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Homocystinuria, cblE Type, via the MTRR 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
Cobalamin Metabolism Panel (MitomeNGS) Baylor Genetics United States	10	9	C Sequence analysis of the entire coding region
MTRR Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis

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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.