Spinal muscular atrophy-3, 253400, Autosomal recessive; SMA3 (Proximal spinal muscular atrophy) (SMN1 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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Spinal muscular atrophy-1, 253300, Autosomal recessive; SMA1 (Proximal spinal muscular atrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Spinal muscular atrophy-1, 253300, Autosomal recessive; SMA1 (Proximal spinal muscular atrophy) (SMN1 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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Spinal muscular atrophy-1, 253300, Autosomal recessive; SMA1 (Proximal spinal muscular atrophy) (SMN1 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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Spinal muscular atrophy-2, 253550, Autosomal recessive; SMA2 (Proximal spinal muscular atrophy) (SMN1 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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Spinal muscular atrophy-4, 271150, Autosomal recessive; SMA4 (Proximal spinal muscular atrophy) (SMN1 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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Spinal muscular atrophy-4, 271150, Autosomal recessive; SMA4 (Proximal spinal muscular atrophy) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Spinal muscular atrophy-2, 253550, Autosomal recessive; SMA2 (Proximal spinal muscular atrophy) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Spinal muscular atrophy-1, 253300, Autosomal recessive; SMA1 (Proximal spinal muscular atrophy) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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Spinal muscular atrophy-3, 253400, Autosomal recessive; SMA3 (Proximal spinal muscular atrophy) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Spinal muscular atrophy-4, 271150, Autosomal recessive; SMA4 (Proximal spinal muscular atrophy) (SMN1 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
|
Spinal muscular atrophy-4, 271150, Autosomal recessive; SMA4 (Proximal spinal muscular atrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
|
Spinal muscular atrophy-3, 253400, Autosomal recessive; SMA3 (Proximal spinal muscular atrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey | 1 | 1 | - D Deletion/duplication analysis
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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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UNITY Carrier Screen BillionToOne
United States | 16 | 5 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
- T Targeted variant analysis
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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
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Fundamental Panel (CF and SMA) Myriad Genetics, Inc.
United States | 6 | 2 | - C Sequence analysis of the entire coding region
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Invitae Broad Carrier Screen without X-linked Disorders Labcorp Genetics (formerly Invitae) LabCorp
United States | 195 | 98 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Invitae Comprehensive Carrier Screen without X-Linked Disorders Labcorp Genetics (formerly Invitae) LabCorp
United States | 8 | 2 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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Invitae Core Carrier Screen without X-linked Disorders Labcorp Genetics (formerly Invitae) LabCorp
United States | 4 | 5 | - D Deletion/duplication analysis
- C Sequence analysis of the entire coding region
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