Clinical and research tests for C4721541 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 89

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PEX1-Related Zellweger Syndrome Spectrum Myriad Genetics, Inc. United States	2	1	C Sequence analysis of the entire coding region
Parkinson Disease and Parkinsonism Panel PreventionGenetics, part of Exact Sciences United States	68	70	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Zellweger Spectrum Disorder Panel Invitae United States	36	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX1 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
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	C Sequence analysis of the entire coding region
PEX1 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	234	240	D Deletion/duplication analysis 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
Periventricular heterotopia panel Genologica Medica Spain	52	20	C Sequence analysis of the entire coding region
Retinitis pigmentosa panel Genologica Medica Spain	164	108	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
PEX1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	3	1	D Deletion/duplication analysis
PEX1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
PEX1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis

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Results: 21 to 40 of 89

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.

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Results: 21 to 40 of 89

Results: 21 to 40 of 89