Clinical and research tests for C1844934 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NewbornGeneID GeneID Lab - Advanced Molecular Diagnostics United States	73	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
UBA1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Spinal muscular atrophy, X-linked 2, infantile, 301830, X-linked recessive; SMAX2 (X-linked distal arthrogryposis multiplex congenita) (UBA1 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, X-linked 2, infantile, 301830, X-linked recessive; SMAX2 (X-linked distal arthrogryposis multiplex congenita) (UBA1 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
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
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
Comprehensive Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	209	145	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Congenital Hypotonia Xpanded Panel GeneDx United States	10	1423	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spinal Muscular Atrophy NGS Panel Fulgent Genetics United States	93	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
INFANTILE SPINAL MUSCULAR ATROPHY (X-LINKED) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL (X-LINKED ) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation Athena Diagnostics United States	10	10	C Sequence analysis of the entire coding region
Spinal Muscular Atrophy (SMA) Panel CeGaT GmbH Germany	44	27	C Sequence analysis of the entire coding region

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