Clinical and research tests for 105400 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Amyotrophic lateral sclerosis, susceptibility to, 105400, Autosomal recessive, Autosomal dominant (Amyotrophic lateral sclerosis) (DCTN1 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
Amyotrophic lateral sclerosis, susceptibility to, 105400, Autosomal recessive, Autosomal dominant; ALS1 (Amyotrophic lateral sclerosis) (NEFH 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
Amyotrophic lateral sclerosis, susceptibility to, 105400, Autosomal recessive, Autosomal dominant (Amyotrophic lateral sclerosis) (PRPH 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
Amyotrophic lateral sclerosis 1, 105400, Autosomal recessive, Autosomal dominant (Amyotrophic lateral sclerosis) (SOD1 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
Amyotrophic Lateral Sclerosis (ALS) Center for Genetics at Saint Francis Saint Francis Hospital United States	1	1	C Sequence analysis of the entire coding region
SOD1 Gene, Full Gene Analysis Mayo Clinic Laboratories Mayo Clinic United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Superoxide dismutase 1 (SOD1) gene sequencing test Neurogenetics Cyprus Institute of Neurology and Genetics Cyprus	1	1	C Sequence analysis of the entire coding region
Invitae Frontotemporal Dementia with C9orf72 Panel Labcorp Genetics (formerly Invitae) LabCorp United States	30	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
DCTN1 - 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
SOD1 - 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
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
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	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
Parkinson Disease Panel Centogene AG - the Rare Disease Company Germany	78	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis (ALS) / Dementia Panel Centogene AG - the Rare Disease Company Germany	64	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Hereditary Parkinson Disease and Parkinsonism Panel Labcorp Genetics (formerly Invitae) LabCorp United States	44	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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