Clinical and research tests for C3542026 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 55

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
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX2 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
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	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
PEX2 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
PEX2 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
PEX2 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
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
Beacon Ashkenazi Jewish Male Carrier Screening Panel Fulgent Genetics United States	145	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	356	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	277	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
Beacon Ashkenazi Jewish Female Carrier Screening Panel Fulgent Genetics United States	148	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	718	337	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Panel Fulgent Genetics United States	638	300	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Male Carrier Screening Plus Panel Fulgent Genetics United States	663	308	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 55

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.