Clinical and research tests for C0751885 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 47

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	690	326	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myasthenic Syndrome Asper Biogene Asper Biogene LLC Estonia	46	23	C Sequence analysis of the entire coding region
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Reference Laboratory Genetics Spain	60	44	C Sequence analysis of the entire coding region
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Reference Laboratory Genetics Spain	159	111	C Sequence analysis of the entire coding region
Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes Reference Laboratory Genetics Spain	18	12	C Sequence analysis of the entire coding region
Congenital Contractures NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	81	57	C Sequence analysis of the entire coding region
MYASTHENIC SYNDROME, SLOW-CHANNEL Laboratorio de Genetica Clinica SL Spain	4	4	C Sequence analysis of the entire coding region
MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY Laboratorio de Genetica Clinica SL Spain	5	4	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	233	144	C Sequence analysis of the entire coding region
Congenital Myasthenia , Sequencing CHRNE Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Congenital Myasthenic Syndrome Type 1A, slow-channel , Sequencing CHRNA1 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Congenital Myasthenic Syndrome Advanced Sequencing Evaluation Athena Diagnostics Inc United States	17	13	C Sequence analysis of the entire coding region
Single gene testing CHRNA1 CeGaT GmbH Germany	3	1	C Sequence analysis of the entire coding region
Single gene testing CHRNB1 CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region
Single gene testing CHRND CeGaT GmbH Germany	3	1	C Sequence analysis of the entire coding region
CHRNB1 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHRND Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 47

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.