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
|
TNNI2 - 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
|
CentoDysmorph Panel Centogene AG - the Rare Disease Company
Germany | 740 | 728 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Arthyrgryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (TNNT3 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
|
Arthrogryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (MYH3 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
|
Arthrogryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (TPM2 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
|
Arthrogryposis multiplex congenita, distal, type 2B, 601680, Autosomal dominant; DA2B (Sheldon-Hall syndrome) (TNNI2 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
|
Arthrogryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (MYH3 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
|
Arthrogryposis multiplex congenita, distal, type 2B, 601680, Autosomal dominant; DA2B (Sheldon-Hall syndrome) (TNNI2 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
|
Arthyrgryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (TNNT3 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
|
Arthrogryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (TPM2 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
|
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences
United States | 376 | 266 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Distal Arthrogryposis Panel PreventionGenetics, part of Exact Sciences
United States | 14 | 12 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
MYH3-Related Distal Arthrogryposis via the MYH3 Gene PreventionGenetics, part of Exact Sciences
United States | 2 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Tropomyosin 2-Related Disorders via the TPM2 Gene PreventionGenetics, part of Exact Sciences
United States | 3 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNT3 Gene PreventionGenetics, part of Exact Sciences
United States | 1 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNI2 Gene PreventionGenetics, part of Exact Sciences
United States | 1 | 1 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica
Spain | 135 | 69 | - C Sequence analysis of the entire coding region
|
