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
|
ACTA1 - 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
|
CentoCardio Panel Centogene AG - the Rare Disease Company
Germany | 289 | 275 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
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 Rhabdomyolysis and Metabolic Myopathy Panel Invitae
United States | 202 | 128 | - D Deletion/duplication analysis
|
Invitae Malignant Hyperthermia Susceptibility Panel Invitae
United States | 8 | 3 | - D Deletion/duplication analysis
|
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
|
Myopathy, congenital, with fiber-type disproportion 1, 255310, Autosomal recessive, Autosomal dominant (Congenital fiber-type disproportion myopathy) (ACTA1 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; CFTD (Congenital fiber-type disproportion myopathy) (SELENON 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
|
Myopathy, congenital, with fiber-type disproportion 1, 255310, Autosomal recessive, Autosomal dominant (Congenital fiber-type disproportion myopathy) (ACTA1 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; CFTD (Congenital fiber-type disproportion myopathy) (SELENON 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
|
Invitae Periodic Paralysis Panel Invitae
United States | 18 | 6 | - D Deletion/duplication analysis
|
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences
United States | 223 | 198 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
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
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