Clinical and research tests for C0002895 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HBB Gene Sequencing GENETIX Centro de Investigación en Genética Humana y Reproductiva Colombia	3	1	C Sequence analysis of the entire coding region
NewbornGeneID GeneID Lab - Advanced Molecular Diagnostics United States	73	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HBB - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Carrier Screening Guidelines-Based Panel Ambry Genetics United States	199	165	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics United States	345	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
beta Thalassemia Dr. Zeinali's Medical Genetics Lab Kawsar Human Genetics Research Center Iran	11	1	D Deletion/duplication analysis L Linkage analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Sickle cell anemia, 603903, Autosomal recessive (Sickle cell anemia) (HBB 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
Sickle cell anemia, 603903, Autosomal recessive (Sickle cell anemia) (HBB 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
Sickle cell anemia (GLU6VAL) (HBB 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
Sickle cell anemia (GLU6VAL) (HBB 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
UNITY Carrier Screen BillionToOne United States	16	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Core Carrier Screen Invitae United States	6	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hb Beta Chain-Related Hemoglobinopathy Myriad Genetics, Inc. United States	2	1	C Sequence analysis of the entire coding region
Mutation analysis for beta Thalassemia Diagnostics Division CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS India	9	1	C Sequence analysis of the entire coding region
Hemoglobin SC Mutation Analysis Versiti Diagnostic Laboratories Versiti, Inc United States	1	1	C Sequence analysis of the entire coding region
Beta-Thalassemia and Hemoglobinopathy via the HBB Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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