Clinical and research tests for 121050 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Contractural arachnodactyly, congenital, 121050, Autosomal dominant; DA9 (Congenital contractural arachnodactyly) (FBN2 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
Contractural arachnodactyly, congenital, 121050, Autosomal dominant; DA9 (Congenital contractural arachnodactyly) (FBN2 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
Distal Arthrogryposis Panel Genetic Services Laboratory University of Chicago United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Aortopathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	54	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Marfan and Related Conditions Panel Mayo Clinic Laboratories Mayo Clinic United States	37	30	D Deletion/duplication analysis S Mutation scanning of the entire coding region
FBN2 - 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
Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	195	92	D Deletion/duplication analysis
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Marfan Syndrome and Related Aortopathies Panel PreventionGenetics, part of Exact Sciences United States	40	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fibrillinopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Fibrillinopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fibrillinopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contractural arachnodactyly Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital contractural arachnodactyly Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contractural arachnodactyly NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
TAADNext® Ambry Genetics United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FBN1 gene sequence and deletion/duplication reflex to TAADNext® Ambry Genetics United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cardio® Ambry Genetics United States	236	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fibrillinopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.