Clinical and research tests for C1851536 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 4

Results: 1 to 20 of 73

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
Invitae Connective Tissue Disorders Panel Invitae 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 Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Stickler Syndrome Panel Invitae United States	32	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450, Autosomal dominant; EDMMD (Multiple epiphyseal dysplasia, Beighton type) (COL2A1 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
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450, Autosomal dominant; EDMMD (Multiple epiphyseal dysplasia, Beighton type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450, Autosomal dominant; EDMMD (Multiple epiphyseal dysplasia, Beighton type) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450, Autosomal dominant; EDMMD (Multiple epiphyseal dysplasia, Beighton type) (COL2A1 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
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Stickler22qZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	33	10	C Sequence analysis of the entire coding region
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
COL2A1-Related Disorders via the COL2A1 Gene PreventionGenetics, part of Exact Sciences United States	15	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

<< First< Prev

Page 1 of 4

Results: 1 to 20 of 73

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.