Clinical and research tests for C1857728 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
F12 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atypical Hemolytic Uremic Syndrome (aHUS) Panel Centogene AG - the Rare Disease Company Germany	23	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Blood Coagulation Panel Centogene AG - the Rare Disease Company Germany	110	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Angioedema Panel Labcorp Genetics (formerly Invitae) LabCorp United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Angioedema, hereditary, type III, 610618, Autosomal dominant; HAE3 (Hereditary angioedema) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Angioedema, hereditary, type III, 610618, Autosomal dominant; HAE3 (Hereditary angioedema) (F12 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
F12 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	1	1	E Sequence analysis of select exons
Clotting factor deficiency panel. 16-gene NGS panel. Genologica Medica Spain	29	16	C Sequence analysis of the entire coding region
Bleeding disorder / coagulopathy panel. NGS panel of 62 genes. Genologica Medica Spain	96	62	C Sequence analysis of the entire coding region
Angioedema, hereditary: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
Angioedema, hereditary, type III Duzen Laboratories Duzen BBAGUAS Turkey	1	1	C Sequence analysis of the entire coding region
Comprehensive Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States	58	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel Fulgent Genetics United States	146	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Focus Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States	40	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Coagulation Disorders Asper Biogene Asper Biogene LLC Estonia	21	16	C Sequence analysis of the entire coding region
Vascular and lymphatic disorders Panel CeGaT GmbH Germany	17	18	C Sequence analysis of the entire coding region
Single gene testing F12 CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region
F12 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Coagulation Deficiency NGS Panel Fulgent Genetics United States	56	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.