Clinical and research tests for C4225400 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MARS1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	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
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Interstitial lung and liver disease, 615486, Autosomal recessive; ILLD (Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency) (MARS 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
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	171	137	C Sequence analysis of the entire coding region
Charcot-Marie-Tooth Type 2U via the MARS1/MARS Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive lung panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	64	66	C Sequence analysis of the entire coding region
Neonatal Respiratory Distress panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	16	16	C Sequence analysis of the entire coding region
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States	416	235	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Surfactant Dysfunction & Respiratory Distress in Premature Infants NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	12	11	C Sequence analysis of the entire coding region
Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	36	40	C Sequence analysis of the entire coding region
Comprehensive Pulmonary NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	123	124	C Sequence analysis of the entire coding region
Comprehensive Pulmonary-Vascular Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	100	86	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Respiratory Distress Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	32	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MARS Single Gene Fulgent Genetics United States	19	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel CeGaT GmbH Germany	147	143	C Sequence analysis of the entire coding region
Charcot Marie Tooth Disease Extended NGS Panel Fulgent Genetics United States	172	59	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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