Clinical and research tests for C0270952 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	374	169	C Sequence analysis of the entire coding region
Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	316	180	C Sequence analysis of the entire coding region
Congenital muscular dystrophies (NGS panel for 31 genes) Unilabs Genetics CGC Genetics Portugal	77	31	C Sequence analysis of the entire coding region
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	451	240	C Sequence analysis of the entire coding region
Congenital muscular dystrophies (WES based NGS panel for 46 genes, including CNV analysis) Unilabs Genetics CGC Genetics Portugal	97	46	C Sequence analysis of the entire coding region
PABPN1 Repeat Analysis GeneDx United States	1	1	C Sequence analysis of the entire coding region
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Reference Laboratory Genetics Spain	160	111	C Sequence analysis of the entire coding region
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	238	144	C Sequence analysis of the entire coding region
BCL2L2-PABPN1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
BCL2L2 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Oculopharyngeal muscular dystrophy Bioarray Spain	1	1	C Sequence analysis of the entire coding region
PABPN1 MGZ Medical Genetics Center Germany	2	1	C Sequence analysis of the entire coding region
Single gene testing PABPN1 CeGaT GmbH Germany	1	1	C Sequence analysis of the entire coding region
Muscular Dystrophies Panel CeGaT GmbH Germany	37	32	C Sequence analysis of the entire coding region
PABPN1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5133	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular NGS Panel Fulgent Genetics United States	261	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Oculopharyngeal muscular dystrophy: PABPN1 gene GCN expansion GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spain	1	1	C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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