Clinical and research tests for MLC1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
MLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Ataxia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	199	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Megalencephalic leukoencephalopathy mutation study Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	1	1	T Targeted variant analysis
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MLC1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Overgrowth Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Megalencephalic leukoencephalopathy with subcortical cysts, 604004, Autosomal recessive; MLC1 (Megalencephalic leukoencephalopathy with subcortical cysts) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Megalencephalic leukoencephalopathy with subcortical cysts, 604004, Autosomal recessive; MLC1 (Megalencephalic leukoencephalopathy with subcortical cysts) (MLC1 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
Megalencephalic leukoencephalopathy with subcortical cysts, 604004, Autosomal recessive; MLC1 (Megalencephalic leukoencephalopathy with subcortical cysts) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Megalencephalic leukoencephalopathy with subcortical cysts, 604004, Autosomal recessive; MLC1 (Megalencephalic leukoencephalopathy with subcortical cysts) (MLC1 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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