Clinical and research tests for C2749604 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CFH region Deletion/Duplication by MLPA (2 Day STAT TAT) Machaon Diagnostics United States	1	5	D Deletion/duplication analysis
Genetic Renal Panel v8 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	21	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TMA-Complete Genetic Panel 3.0 Machaon Diagnostics United States	6	24	E Sequence analysis of select exons
Invitae Expanded Renal Disease Panel Invitae 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
CFHR1 - MLPA Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis
CFHR3 - MLPA Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atypical Hemolytic Uremic Syndrome (aHUS) Panel Centogene AG - the Rare Disease Company Germany	23	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Nephrotic Syndrome and Focal Segmental Glomerulosclerosis (FSGS) Panel Invitae United States	81	57	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Complement Deficiency Disorders Panel Invitae United States	35	22	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel Invitae United States	25	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hemolytic uremic syndrome, atypical, susceptibility to, 235400, Autosomal recessive, Autosomal dominant; AHUS1 (Atypical hemolytic-uremic syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hemolytic uremic syndrome, atypical, susceptibility to, 3, 612923, Autosomal dominant; AHUS3 (Atypical hemolytic-uremic syndrome) (CFI 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
Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400, Autosomal recessive, Autosomal dominant (Atypical hemolytic-uremic syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hemolytic uremic syndrome, atypical, susceptibility to, 3, 612923, Autosomal dominant; AHUS3 (Atypical hemolytic-uremic syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400, Autosomal recessive, Autosomal dominant (Atypical hemolytic-uremic syndrome) (CFH 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

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