Clinical and research tests for C2931013 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cystinosis via the CTNS gene, 57-kb Deletion PreventionGenetics, part of Exact Sciences United States	3	1	C Sequence analysis of the entire coding region T Targeted variant analysis
White Blood Cell Cystine Baylor Genetics United States	3	1	A Analyte
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain	175	102	C Sequence analysis of the entire coding region
Cystinosis: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	1	C Sequence analysis of the entire coding region
Cystinosis CTNS gene testing Duzen Laboratories Duzen BBAGUAS Turkey	4	1	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
Cystinosis (CTNS Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Abnormal Mineralization NGS Panel Fulgent Genetics United States	77	30	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
Cystinosis Institute of Human Genetics Cologne University Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Reference Laboratory Genetics Spain	108	82	C Sequence analysis of the entire coding region
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Reference Laboratory Genetics Spain	109	78	C Sequence analysis of the entire coding region
Lysosomal Storage Disease Asper Biogene Asper Biogene LLC Estonia	70	50	C Sequence analysis of the entire coding region
CYSTINOSIS Laboratorio de Genetica Clinica SL Spain	3	1	C Sequence analysis of the entire coding region
Cystinosis, Deletions-Duplications (MLPA) CTNS Gene Reference Laboratory Genetics Spain	3	1	D Deletion/duplication analysis
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

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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.