Clinical and research tests for 615349 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Ehlers-Danlos syndrome, progeroid type, 2, 615349, Autosomal recessive; EDSP2 (Ehlers-Danlos syndrome, progeroid type) (B3GALT6 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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	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
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Comprehensive panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome NGS panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome, progeroid type, Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome, progeroid type, Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome, progeroid type, NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	2	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
Connective tissue disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States	37	47	C Sequence analysis of the entire coding region T Targeted variant analysis
Connective tissue disorder Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	37	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Connective tissue disorder Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	37	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progeroid syndromes and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	21	21	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.