Clinical and research tests for C0019045 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Hemolytic Anemia Cascade ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	24	31	D Deletion/duplication analysis 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
UNITY Carrier Screen BillionToOne United States	16	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Gamma globin gene sequencing Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland United States	4	2	C Sequence analysis of the entire coding region
Cellulose Acetate Electrophoresis Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland United States	4	3	P Protein analysis
Capillary Zone Electrophoresis (Sebia) Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland United States	10	4	P Protein analysis
Beta globin gene sequencing Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland United States	2	1	C Sequence analysis of the entire coding region
Alpha globin gene sequencing Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland United States	4	2	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
Horizon 137 Male Natera, Inc. United States	130	133	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 14 Male plus TSE Natera, Inc. United States	12	14	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 14 Male Natera, Inc. United States	12	13	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
HLA High Resolution Panel by NGS Versiti Diagnostic Laboratories Versiti, Inc United States	4	11	C Sequence analysis of the entire coding region
Horizon 14 Natera, Inc. United States	15	15	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 106 plus TSE Natera, Inc. United States	103	107	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 27 Natera, Inc. United States	28	28	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 106 Natera, Inc. United States	103	106	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 27 plus TSE Natera, Inc. United States	28	29	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Plus TSE Natera, Inc. United States	265	275	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis

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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.