Congenital Myopathy Panel Genetic Services Laboratory University of Chicago
United States | 31 | 43 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
TPM3 Gene Nemaline myopathy type 1 NGS Genetic DNA Test DNA Labs India
India | 1 | 1 | - S Mutation scanning of the entire coding region
|
Neuromuscular Gene Panel Mayo Clinic Laboratories Mayo Clinic
United States | 1 | 216 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
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
|
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
|
CAP myopathy 1, 609284, Autosomal recessive, Autosomal dominant (CAP myopathy) (TPM3 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
|
CAP myopathy 1, 609284, Autosomal recessive, Autosomal dominant (CAP myopathy) (TPM3 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
|
Nemaline myopathy 1, autosomal dominant or recessive, 609284, Autosomal recessive, Autosomal dominant; NEM1 (Intermediate nemaline myopathy) (TPM3 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
|
Myopathy, congenital, with fiber-type disproportion, 255310, Autosomal recessive, Autosomal dominant (Congenital fiber-type disproportion myopathy) (TPM3 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
|
Nemaline myopathy 1, autosomal dominant or recessive, 609284, Autosomal recessive, Autosomal dominant; NEM1 (Intermediate nemaline myopathy) (TPM3 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
|
Myopathy, congenital, with fiber-type disproportion, 255310, Autosomal recessive, Autosomal dominant (Congenital fiber-type disproportion myopathy) (TPM3 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
|
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States | 480 | 254 | - C Sequence analysis of the entire coding region
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL
Spain | 3 | 1969 | - S Mutation scanning of the entire coding region
- C Sequence analysis of the entire coding region
|
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences
United States | 183 | 142 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Invitae Comprehensive Myopathy Panel Invitae
United States | 143 | 70 | - D Deletion/duplication analysis
|
Invitae Congenital Myopathy Panel Invitae
United States | 58 | 36 | - D Deletion/duplication analysis
|
