Clinical and research tests for 600121 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 52

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Peroxisomal Disorders Panel PreventionGenetics, part of Exact Sciences United States	36	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Rhizomelic Chondrodysplasia Punctata Type 3 via the AGPS Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Peroxisomal disorders panel. NGS panel of 27 genes. Genologica Medica Spain	45	27	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
Chondrodysplasia punctata panel. 9-gene NGS panel. Genologica Medica Spain	14	9	C Sequence analysis of the entire coding region
Peroxisomal Disorder Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	17	26	C Sequence analysis of the entire coding region
Peroxisomal Disorders Gene Panel Duzen Laboratories Duzen BBAGUAS Turkey	39	30	C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
AGPS Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
AGPS Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
AGPS Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Horizon 274 Plus TSE Natera, Inc. United States	265	274	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Rhizomelic chondrodysplasia punctata: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
Chondrodysplasia Punctata NGS Panel Fulgent Genetics United States	12	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	636	298	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	661	306	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	690	326	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 52

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.