Clinical and research tests for C2930990 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
NewbornGeneID GeneID Lab - Advanced Molecular Diagnostics United States	73	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carrier Screening Ashkenazi Jewish Panel Ambry Genetics United States	51	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Maple Syrup Urine Disease Type 1B Myriad Genetics, Inc. United States	1	1	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
BCKDHB Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
BCKDHB Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
BCKDHB Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis
BCKDHB Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dysautonomia, Familial (ELP1), 2 Variants ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	9	9	E Sequence analysis of select exons
Maple Syrup Urine Disease (BCKDHA, BCKDHB, DBT Genes) Duzen Laboratories Duzen BBAGUAS Turkey	3	3	C Sequence analysis of the entire coding region
MSUD Type 1B Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region
Horizon 137 Male Natera, Inc. United States	130	133	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 106 plus TSE Natera, Inc. United States	103	107	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 106 Natera, Inc. United States	103	106	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Plus TSE Natera, Inc. United States	265	275	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 137 plus TSE Natera, Inc. United States	135	138	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 137 Natera, Inc. United States	135	137	E Sequence analysis of select exons C Sequence analysis of the entire coding region 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.