Clinical and research tests for C2675212 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 43

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
SLC4A1-Associated Distal Renal Tubular Acidosis (SLC4A1 Single Gene Test) Fulgent Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Renal Tubular Acidosis NGS Panel Fulgent Genetics United States	8	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Erythrocytosis NGS Panel Fulgent Genetics United States	61	24	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
Bartter Syndrome NGS Panel Fulgent Genetics United States	39	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Spherocytosis type 4 (SLC4A1) Targeted Testing DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	1	1	T Targeted variant analysis
Erythrocytes, Anemia Panel CeGaT GmbH Germany	14	33	C Sequence analysis of the entire coding region
Hemolytic Anemia 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	33	34	E Sequence analysis of select exons
Single gene testing SLC4A1 CeGaT GmbH Germany	3	1	C Sequence analysis of the entire coding region
Hereditary spherocytosis type 4 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
SLC4A1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
SLC4A1 Single Gene Fulgent Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Spherocytosis NGS Panel Fulgent Genetics United States	10	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Erythrocyte membrane disorder panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands	16	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC4A1 Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	3	1	C Sequence analysis of the entire coding region T Targeted variant analysis
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: 21 to 40 of 43

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.