Clinical and research tests for 2733 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GLE1 Gene Lethal congenital contracture syndrome type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
GLE1 - 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
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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital contracture syndrome extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital contracture syndrome extended NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	31	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lethal congenital contracture syndrome and related disorders NGS Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	C Sequence analysis of the entire coding region T Targeted variant analysis
Lethal congenital contracture syndrome and related disorders Comprehensive Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel PreventionGenetics, part of Exact Sciences United States	45	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Amyotrophic Lateral Sclerosis (ALS) Panel PreventionGenetics, part of Exact Sciences United States	32	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Arthrogryposis, lethal, with anterior horn cell disease, 611890; LAAHD (Lethal arthrogryposis-anterior horn cell disease syndrome) (GLE1 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
Arthrogryposis, lethal, with anterior horn cell disease, 611890; LAAHD (Lethal arthrogryposis-anterior horn cell disease syndrome) (GLE1 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
Lethal congenital contracture syndrome 1, 253310, Autosomal recessive; LCCS1 (Lethal congenital contracture syndrome type 1) (GLE1 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
Lethal congenital contracture syndrome 1, 253310, Autosomal recessive; LCCS1 (Lethal congenital contracture syndrome type 1) (GLE1 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
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

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.