Clinical and research tests for 611089 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (sequence analysis of CDK13 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MTMR14 Gene Centronuclear myopathy type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
MTMR14 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Centronuclear myopathy, autosomal, modifier of, 160150, Autosomal dominant (Autosomal dominant centronuclear myopathy) (MTMR14 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Centronuclear myopathy, autosomal, modifier of, 160150, Autosomal dominant (Autosomal dominant centronuclear myopathy) (MTMR14 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Neuromuscular diseases panel_v.2.0 CGC Genetics Unilabs Portugal	17	248	C Sequence analysis of the entire coding region
Myopathies panel CGC Genetics Unilabs Portugal	1	181	C Sequence analysis of the entire coding region
Centronuclear myopathy AD (sequence analysis of MTMR14 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	416	E Sequence analysis of select exons
MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL Laboratorio de Genetica Clinica SL Spain	1	250	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Xpanded Adult Movement Disorders Panel GeneDx United States	5	473	C Sequence analysis of the entire coding region
Congenital Hypotonia Xpanded Panel GeneDx United States	10	1423	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myopathies (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	8	55	C Sequence analysis of the entire coding region
Myopathy, centronuclear: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	7	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
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	233	144	C Sequence analysis of the entire coding region

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