Clinical and research tests for C0017923 - Genetic Testing Registry (GTR)

Page 3 of 5

Results: 41 to 60 of 93

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Amyotrophic lateral sclerosis panel. 32-gene NGS panel. Genologica Medica Spain	66	32	C Sequence analysis of the entire coding region
Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain	89	52	C Sequence analysis of the entire coding region
Spastic paraplegia panel Genologica Medica Spain	100	60	C Sequence analysis of the entire coding region
Glycogen storage disorder panel. 29-gene NGS panel. Genologica Medica Spain	33	29	C Sequence analysis of the entire coding region
Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain	73	50	C Sequence analysis of the entire coding region
Glycogenosis (inherited metabolic disorders). NGS panel of 24 genes. Genologica Medica Spain	30	24	C Sequence analysis of the entire coding region
General panel of metabolic myopathies Genologica Medica Spain	114	110	C Sequence analysis of the entire coding region
Glycogen Storage Disorders Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	40	32	C Sequence analysis of the entire coding region
Glycogen Storage Diseases Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey	28	26	C Sequence analysis of the entire coding region
GBE1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GBE1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
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 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
Glycogen storage disorders Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	17	17	C Sequence analysis of the entire coding region
Glycogen Storage Disease Gene Sequencing Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	19	19	C Sequence analysis of the entire coding region

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Results: 41 to 60 of 93

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.

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Results: 41 to 60 of 93

Results: 41 to 60 of 93