Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests
United States | 1 | 42 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests
United States | 6 | 24 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests
United States | 1 | 42 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests
United States | 1 | 42 | - C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Distal hereditary motor neuropathy and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests
United States | 6 | 24 | - C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Complex Hereditary Spastic Paraplegia Panel PreventionGenetics, part of Exact Sciences
United States | 72 | 87 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Hereditary Spastic Paraplegia Comprehensive Panel PreventionGenetics, part of Exact Sciences
United States | 87 | 106 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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Brachyolmia type 3, 113500, Autosomal dominant; BCYM3 (Autosomal dominant brachyolmia) (TRPV4 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
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Avascular necrosis of femoral head, primary, 2, 617383, Autosomal dominant; ANFH2 (Familial avascular necrosis of femoral head) (TRPV4 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
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Hereditary motor and sensory neuropathy, type IIc, 606071, Autosomal dominant; HMSN2C (Autosomal dominant Charcot-Marie-Tooth disease type 2C) (TRPV4 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
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Metatropic dysplasia, 156530, Autosomal dominant (Metatropic dysplasia) (TRPV4 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
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Metatropic dysplasia, 156530, Autosomal dominant (Metatropic dysplasia) (TRPV4 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
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SED, Maroteaux type, 184095, Autosomal dominant (Spondyloepiphyseal dysplasia, Maroteaux type) (TRPV4 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
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Scapuloperoneal spinal muscular atrophy, 18; SPSMA (Scapuloperoneal spinal muscular atrophy) (TRPV4 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
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SED, Maroteaux type, 184095, Autosomal dominant (Spondyloepiphyseal dysplasia, Maroteaux type) (TRPV4 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
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Parastremmatic dwarfism, 168400, Autosomal dominant (Parastremmatic dwarfism) (TRPV4 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
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Parastremmatic dwarfism, 168400, Autosomal dominant (Parastremmatic dwarfism) (TRPV4 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
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Digital arthropathy-brachydactyly, familial, 606835, Autosomal dominant; FDAB (Familial digital arthropathy-brachydactyly) (TRPV4 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
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Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis) Variantyx, Inc.
United States | 14 | 118 | - D Deletion/duplication analysis
- X Mutation scanning of select exons
- C Sequence analysis of the entire coding region
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NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States | 480 | 254 | - C Sequence analysis of the entire coding region
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