Clinical and research tests for C1841621 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1 (Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome) (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
Erythremias, beta- (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1; HBFQTL1 (Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Erythremias, beta- (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Fetal hemoglobin quantitative trait locus 1, 141749, Autosomal dominant (Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome) (HBG1 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
Fetal hemoglobin quantitative trait locus 1, 141749, Autosomal dominant (Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome) (HBG2 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
Fetal hemoglobin quantitative trait locus 1, 141749, Autosomal dominant (Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome) (HBG2 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
Erythremias, beta- (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
Fetal hemoglobin quantitative trait locus 1, 141749, Autosomal dominant (Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome) (HBG1 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
Erythremias, beta- (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
Hereditary persistence of fetal hemoglobin, 141749, Autosomal dominant (Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hereditary persistence of fetal hemoglobin, 141749, Autosomal dominant (Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome) (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
Methemoglobinemias, beta- (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Methemoglobinemias, beta- (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Methemoglobinemias, beta- (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
Methemoglobinemias, beta- (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
Delta-beta thalassemia, 141749, Autosomal dominant (Delta-beta-thalassemia) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Delta-beta thalassemia, 141749, Autosomal dominant (Delta-beta-thalassemia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis

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