Clinical and research tests for 253550 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spinal muscular atrophy-2, 253550, Autosomal recessive; SMA2 (Proximal spinal muscular atrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Spinal muscular atrophy-2, 253550, Autosomal recessive; SMA2 (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-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
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
Spinal Muscular Atrophy - I, II, and III Center for Genetics at Saint Francis Saint Francis Hospital United States	3	1	D Deletion/duplication analysis
SMN1 & SMN2 - MLPA Centogene AG - the Rare Disease Company Germany	4	2	D Deletion/duplication analysis
SMN1 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	4	1	C Sequence analysis of the entire coding region
UNITY Carrier Screen BillionToOne United States	16	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
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
Invitae Broad Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spinal Muscular Atrophy via MLPA of SMN1 and SMN2 PreventionGenetics, part of Exact Sciences United States	4	2	D Deletion/duplication analysis
Invitae Spinal Muscular Atrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	4	2	D Deletion/duplication analysis
Invitae Hereditary Motor Neuropathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	60	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
SMN1 Deletion Analysis Baylor Genetics United States	4	1	D Deletion/duplication analysis
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain	65	30	C Sequence analysis of the entire coding region
SMN1 & SMN2 Copy Number Analysis Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	4	2	D Deletion/duplication analysis

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