Clinical and research tests for C1854678 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 73

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Multiple pterygium syndrome, lethal type, 253290, Autosomal recessive (Lethal multiple pterygium syndrome) (CHRND 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
Multiple pterygium syndrome, lethal type, 253290, Autosomal recessive (Lethal multiple pterygium syndrome) (CHRNG 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
Multiple pterygium syndrome, lethal type, 253290, Autosomal recessive (Lethal multiple pterygium syndrome) (CHRNG 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
Multiple pterygium syndrome, lethal type, 253290, Autosomal recessive; LMPS (Lethal multiple pterygium syndrome) (CHRNA1 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Multiple pterygium syndrome, lethal type NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple pterygium syndrome, lethal type Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	3	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
Multiple pterygium syndrome, lethal type Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	183	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Myasthenic Syndrome Panel Invitae United States	38	21	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Panel PreventionGenetics, part of Exact Sciences United States	7	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple Pterygium Syndrome via the CHRNG 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
Congenital Myasthenic Syndromes and Multiple Pterygium Syndrome via the CHRND Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via the CHRNA1 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple pterygium syndrome, lethal type (sequence analysis of CHRND gene) CGC Genetics Unilabs Portugal	1	1	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.