Clinical and research tests for C3280113 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 35

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Invitae Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	81	57	D Deletion/duplication analysis
Congenital Myasthenic Syndrome Panel PreventionGenetics, part of Exact Sciences United States	59	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrotic syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	27	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrotic syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	27	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrotic syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	27	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; NPHS5 (LAMB2-related infantile-onset nephrotic syndrome) (LAMB2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199; NPHS5 (LAMB2-related infantile-onset nephrotic syndrome) (LAMB2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Invitae Progressive Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrotic syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	39	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nephrotic syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	39	42	C Sequence analysis of the entire coding region T Targeted variant analysis
Nephrotic syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	39	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pierson Syndrome and Congenital Nephrotic Syndrome via the LAMB2 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
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Panel PreventionGenetics, part of Exact Sciences United States	59	72	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
LAMB2 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Inherited Renal Disorders Panel Dhiti Omics Technologies Private Ltd India	72	57	C Sequence analysis of the entire coding region
Nephrotic syndrome panel. 36-gene NGS panel. Genologica Medica Spain	49	36	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 35

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.