Clinical and research tests for CN029274 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuromuscular Disorders exome Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL6A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL6A2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL6A3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Bethlem myopathy 1, 158810, Autosomal recessive, Autosomal dominant (Bethlem myopathy) (COL6A2 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
Bethlem myopathy 1, 158810, Autosomal recessive, Autosomal dominant; BTHLM1 (Bethlem myopathy) (COL6A3 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
Bethlem myopathy 1, 158810, Autosomal recessive, Autosomal dominant (Bethlem myopathy) (COL6A2 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
Bethlem myopathy 1, 158810, Autosomal recessive, Autosomal dominant; BTHLM1 (Bethlem myopathy) (COL6A3 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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