Clinical and research tests for C5193014 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain	89	52	C Sequence analysis of the entire coding region
Nemaline myopathy panel. NGS panel of 11 genes. Genologica Medica Spain	15	11	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Myopathy Panel, Congenital CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	33	17	C Sequence analysis of the entire coding region
Neuromuscular Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	138	62	C Sequence analysis of the entire coding region
Arthrogryposis, distal: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	13	9	C Sequence analysis of the entire coding region
Congenital Myopathy NGS Panel Fulgent Genetics United States	186	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis NGS Panel Fulgent Genetics United States	175	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Freeman-Sheldon Syndrome (MYH3 Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arthrogryposis multiplex congenita Institute of Human Genetics Cologne University Germany	9	7	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
Distal Arthrogryposis, Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain	11	9	C Sequence analysis of the entire coding region
Congenital Myopathy and Distal Myopathy NGS panel Asper Biogene Asper Biogene LLC Estonia	78	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ARTHROGRYPOSIS, DISTAL, TYPE 2B (SHELDON-HALL SYNDROME) Laboratorio de Genetica Clinica SL Spain	1	4	C Sequence analysis of the entire coding region
Distal Arthrogryposis Type 2B, Mutations TNNI2 Gene Reference Laboratory Genetics Spain	1	1	E Sequence analysis of select exons
Distal Arthrogryposis Type 2B , Sequencing MYH3 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Distal Arthrogryposis Type 2B, Sequencing TNNI2 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
TPM2 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Arthrogryposis type 2B Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing MYH3 CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 60

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.