Clinical and research tests for C0270724 - Genetic Testing Registry (GTR) - NCBI

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Results: 41 to 60 of 75

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Beacon Expanded Female Carrier Screening Panel Fulgent Genetics United States	690	326	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neurodegeneration with Brain Iron Accumulation Disorders: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	9	8	C Sequence analysis of the entire coding region
PLA2G6-Associated Neurodegeneration: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	1	C Sequence analysis of the entire coding region
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Reference Laboratory Genetics Spain	21	13	C Sequence analysis of the entire coding region
Hereditary Spastic Paraplegia NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	81	79	C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Athena Diagnostics United States	30	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics United States	233	234	D Deletion/duplication analysis C Sequence analysis of the entire coding region
INFANTILE NEUROAXONAL DYSTROPHY (INFANTILE NEUROAXONAL DYSTROPHY) Laboratorio de Genetica Clinica SL Spain	1	2	C Sequence analysis of the entire coding region
Infantile Neuroaxonal Dystrophy, PLA2G6, Sequencing Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	4	1	C Sequence analysis of the entire coding region
Infantile Neuroaxonal Distrophy , Deletions-Duplications (MLPA) PLA2G6 Gene Reference Laboratory Genetics Spain	1	1	D Deletion/duplication analysis
Infantile Neuroaxonal Dystrophy , Sequencing PLA2G6 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
GeneAware Complete Panel Version 2 (Male) Baylor Genetics United States	164	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneAware Complete Panel Version 2 (Female) Baylor Genetics United States	175	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Sequencing NBIA Testing Center Oregon Health & Science University United States	5	1	C Sequence analysis of the entire coding region
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel - Neurodegeneration with brain iron accumulation Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	10	10	S Mutation scanning of the entire coding region T Targeted variant analysis
PLA2G6 Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Infantile neuroaxonal dystrophy Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing NBIA Testing Center Oregon Health & Science University United States	5	19	C Sequence analysis of the entire coding region
Single gene testing PLA2G6 CeGaT GmbH Germany	3	1	C Sequence analysis of the entire coding region

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Results: 41 to 60 of 75

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.