Clinical and research tests for C1862322 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Mayo Clinic Laboratories Mayo Clinic United States	39	40	C Sequence analysis of the entire coding region
Red Blood Cell Membrane Panel, Next-Generation Sequencing Mayo Clinic Laboratories Mayo Clinic United States	19	14	C Sequence analysis of the entire coding region
HemeZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	107	96	C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC4A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Invitae United States	57	28	D Deletion/duplication analysis
Invitae Renal Tubular Disorders Panel Invitae United States	68	39	D Deletion/duplication analysis
Invitae Hereditary Hemolytic Anemia Panel Invitae United States	74	39	D Deletion/duplication analysis
Invitae Nephrolithiasis Panel Invitae United States	66	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ovalocytosis, SA type, 166900, Autosomal dominant; SAO (Southeast Asian ovalocytosis) (SLC4A1 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
Hereditary Hemolytic Anemia Panel PreventionGenetics, part of Exact Sciences United States	44	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
SLC4A1 Institute for Human Genetics University Medical Center Freiburg Germany	11	1	C Sequence analysis of the entire coding region
Nephrolithiasis panel. 35-gene NGS panel. Genologica Medica Spain	60	35	C Sequence analysis of the entire coding region
Renal tubular acidosis panel. Panel NGS genes: ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4. Genologica Medica Spain	15	5	C Sequence analysis of the entire coding region
Spherocytosis Panel, Hereditary CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	19	6	C Sequence analysis of the entire coding region
ELLIPTOCYTOSIS 4 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Southeast Asian Ovalocytosis (SAO, SLC4A1) MVZ Dr. Eberhard & Partner Dortmund Germany	1	1	E Sequence analysis of select exons
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	17	16	C Sequence analysis of the entire coding region

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Results: 1 to 20 of 21

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.