Clinical and research tests for C0268351 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
FBLN5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Marfan Syndrome and Related Aortopathies Panel PreventionGenetics United States	40	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cutis laxa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cutis laxa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cutis laxa NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	9	C Sequence analysis of the entire coding region T Targeted variant analysis
Cutis laxa, autosomal recessive, type IA, 219100, Autosomal recessive; ARCL1A (Autosomal recessive cutis laxa type 1) (FBLN5 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
Cutis laxa, autosomal recessive, type IA, 219100, Autosomal recessive; ARCL1A (Autosomal recessive cutis laxa type 1) (FBLN5 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
Connective Tissue Disorders Panel PreventionGenetics United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skin and Connective Tissue Disorders Panel PreventionGenetics United States	125	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cutis laxa Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cutis laxa NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	9	C Sequence analysis of the entire coding region T Targeted variant analysis
Cutis laxa Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cutis Laxa via the FBLN5 Gene PreventionGenetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Neuropathies Panel Invitae United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Charcot-Marie-Tooth - Demyelinating Neuropathy Panel PreventionGenetics United States	34	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States	123	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics United States	99	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication 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.