Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp
United States | 202 | 128 | - D Deletion/duplication analysis
|
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences
United States | 285 | 137 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp
United States | 253 | 189 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Congenital Disorders of Glycosylation Gene Panel Mayo Clinic Laboratories Mayo Clinic
United States | 1 | 141 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp
United States | 247 | 161 | - D Deletion/duplication analysis
|
Epilepsy Panel Molecular Genetics Laboratory London Health Sciences Centre
Canada | 1 | 166 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Limb girdle muscular dystrophy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests
United States | 50 | 35 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
|
Limb girdle muscular dystrophy NGS panel HNL Genomics Connective Tissue Gene Tests
United States | 50 | 35 | - C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Limb girdle muscular dystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests
United States | 50 | 35 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences
United States | 224 | 170 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
|
Expanded Carrier Screening Genome-Nilou Lab
Iran | 110 | 146 | - C Sequence analysis of the entire coding region
|
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157, Autosomal recessive; MDDGC3 (Autosomal recessive limb-girdle muscular dystrophy type 2O) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151, Autosomal recessive; MDDGB3 (Congenital muscular dystrophy with cerebellar involvement) (POMGNT1 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
|
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151, Autosomal recessive; MDDGB3 (Congenital muscular dystrophy with cerebellar involvement) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157, Autosomal recessive; MDDGC3 (Autosomal recessive limb-girdle muscular dystrophy type 2O) (POMGNT1 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
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280, Autosomal recessive; MDDGA3 (Muscle-eye-brain disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151, Autosomal recessive; MDDGB3 (Congenital muscular dystrophy with cerebellar involvement) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157, Autosomal recessive; MDDGC3 (Autosomal recessive limb-girdle muscular dystrophy type 2O) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157, Autosomal recessive; MDDGC3 (Autosomal recessive limb-girdle muscular dystrophy type 2O) (POMGNT1 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
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280, Autosomal recessive; MDDGA3 (Muscle-eye-brain disease) (POMGNT1 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
|
