Clinical and research tests for CN030853 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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, 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, NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	2	C Sequence analysis of the entire coding region T Targeted variant analysis
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, 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 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
Invitae Ehlers-Danlos Syndrome Panel Invitae United States	38	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Disorders of Glycosylation Panel Invitae United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Low Bone Mass Panel (MitomeNGS) Baylor Genetics United States	39	22	C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
B4GALT7 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
Ehlers-Danlos syndrome, progeroid type (sequence analysis of B3GALT6 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Progeria panel. 17-gene NGS panel. Genologica Medica Spain	48	17	C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome panel. 32-gene NGS panel. Genologica Medica Spain	85	32	C Sequence analysis of the entire coding region
B4GALT7 Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis
B4GALT7 Sequence Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons
B4GALT7 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
B4GALT7 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	E Sequence analysis of select exons
Ehlers Danlos Syndrome Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	31	14	C Sequence analysis of the entire coding region
Connective Tissue Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	112	45	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.