Clinical and research tests for MYH8 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Distal Arthrogryposis Panel Genetic Services Laboratory University of Chicago United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MYH8 Gene Arthrogryposis, distal, type 7 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
MYH8 - 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
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
Congenital contracture syndrome extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal arthrogryposes Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	31	C Sequence analysis of the entire coding region T Targeted variant analysis
Distal arthrogryposes NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal arthrogryposes Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7 (Trismus-pseudocamptodactyly syndrome) (MYH8 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
Carney complex variant, 608837 (Carney complex-trismus-pseudocamptodactyly syndrome) (MYH8 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
Carney complex variant, 608837 (Carney complex-trismus-pseudocamptodactyly syndrome) (MYH8 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
Trismus-pseudocamptodactyly syndrome, 158300, Autosomal dominant (Trismus-pseudocamptodactyly syndrome) (MYH8 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
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Distal arthrogryposes Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal arthrogryposes Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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