Clinical and research tests for 614135 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 48

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Vitreoretinopathy Panel PreventionGenetics, part of Exact Sciences United States	26	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple Epiphyseal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States	29	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Cleft lip panel, cleft palate and associated syndromes. 16-gene NGS panel. Genologica Medica Spain	49	16	C Sequence analysis of the entire coding region
Stickler syndrome panel. 8-gene NGS panel. Genologica Medica Spain	30	8	C Sequence analysis of the entire coding region
Vitreoretinopathy panel. 23-gene NGS panel. Genologica Medica Spain	63	23	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Stickler Syndrome Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	28	6	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
Stickler syndrome Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	5	4	C Sequence analysis of the entire coding region
Epiphyseal dysplasia, multiple: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	7	7	C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Vitreoretinopathy panel Molecular Vision Laboratory United States	36	19	C Sequence analysis of the entire coding region
Multiple epiphyseal dysplasia and pseudoachondroplasia Panel CeGaT GmbH Germany	10	8	C Sequence analysis of the entire coding region
Multiple epiphyseal dysplasia due to collagen 9 anomaly type 6 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Single gene testing COL9A1 CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 48

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.