Clinical and research tests for 613978 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hemoglobin H disease, nondeletional, 613978 (Hemoglobin H disease) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	2	D Deletion/duplication analysis
Hemoglobin H disease, nondeletional, 613978 (Hemoglobin H disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	2	D Deletion/duplication analysis
Hemoglobin H disease, nondeletional, 613978; HBH (Hemoglobin H disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	2	D Deletion/duplication analysis
Hemoglobin H disease, nondeletional, 613978; HBH (Hemoglobin H disease) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	2	D Deletion/duplication analysis
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
Carrier Screening - Alpha Thalassemia (HBA1/2) Genesys Diagnostics Genesys Diagnostics, Inc. United States	2	2	D Deletion/duplication analysis
Infertility Panel Centogene AG - the Rare Disease Company Germany	243	238	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
HBA1 - MLPA Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis
HBA2 - MLPA Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis
HBA1 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	5	1	C Sequence analysis of the entire coding region
HBA2 - Sanger sequencing Centogene AG - the Rare Disease Company Germany	4	1	C Sequence analysis of the entire coding region
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany	212	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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 Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis 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.