Clinical and research tests for C3888385 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 58

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX26 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
PEX26 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain	175	102	C Sequence analysis of the entire coding region
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	C Sequence analysis of the entire coding region
Peroxisomal disorders panel. NGS panel of 27 genes. Genologica Medica Spain	45	27	C Sequence analysis of the entire coding region
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	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
PEX26 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
Cholestasis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	104	73	C Sequence analysis of the entire coding region
PEX26 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
PEX26 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
PEX26 Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Peroxisome biogenesis disorder: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	27	14	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Refsum Disease NGS Panel Fulgent Genetics United States	9	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ZELLWEGER SYNDROME Laboratorio de Genetica Clinica SL Spain	6	6	E Sequence analysis of select exons C Sequence analysis of the entire coding region

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Results: 21 to 40 of 58

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.