Clinical and research tests for C3150805 - Genetic Testing Registry (GTR)

Results: 1 to 14 of 14

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KLF1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Hereditary Hemolytic Anemia Panel Invitae United States	74	39	D Deletion/duplication analysis
Invitae Congenital Dyserythropoietic Anemia (CDA) Panel Invitae United States	12	7	D Deletion/duplication analysis
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States	267	186	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6; HBFQTL6 (Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome) (KLF1 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
[Hereditary persistence of fetal hemoglobin], 613566 (Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome) (KLF1 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
Capillary Zone Electrophoresis (Sebia) Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland United States	10	4	P Protein analysis
Congenital Dyserythropoietic Anemia Type IV via the KLF1 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
KLF1 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.

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Results: 1 to 14 of 14

Results: 1 to 14 of 14