Clinical and research tests for C0268626 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	77	50	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Lysosomal Storage Disorders Panel PreventionGenetics United States	243	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CTNS IUMS Hospital Medical Genetics Lab Iran University of Medical Sciences Iran	4	1	E Sequence analysis of select exons
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900, Autosomal recessive (Cystinosis) (CTNS gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900, Autosomal recessive (Cystinosis) (CTNS gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900, Autosomal recessive (Cystinosis) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900, Autosomal recessive (Cystinosis) (Prenatal) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
Invitae Hypophosphatemia Panel Invitae United States	23	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	526	339	C Sequence analysis of the entire coding region
Invitae Comprehensive Lysosomal Storage Disorders Panel Invitae United States	87	57	D Deletion/duplication analysis
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Invitae United States	120	65	D Deletion/duplication analysis
Cystine (intracellular) Biochemical Genetics Laboratory University of California San Diego United States	3	1	A Analyte
Cystinosis via the CTNS Gene PreventionGenetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cystinosis via the CTNS gene, 57-kb Deletion PreventionGenetics 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	176	102	C Sequence analysis of the entire coding region

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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.