Clinical and research tests for C3280672 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Surgical Risk Screen Invitae United States	24	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
F2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Pregnancy loss, recurrent, susceptibility to, 2, 614390, Autosomal dominant (F2 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
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Invitae United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
PAI1 4G IBC Instituto de Bioquimica Clinica SRL Argentina	3	1	T Targeted variant analysis
Factor II P20210 IBC Instituto de Bioquimica Clinica SRL Argentina	3	1	T Targeted variant analysis
Invitae Hereditary Thrombophilia Panel Invitae United States	24	11	D Deletion/duplication analysis
Thrombophilia Mutation Panel Baylor Genetics United States	11	3	T Targeted variant analysis
Prothrombin Mutation Panel Baylor Genetics United States	4	1	T Targeted variant analysis
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
Female Infertility Asper Biogene Asper Biogene LLC Estonia	85	64	C Sequence analysis of the entire coding region
Factor II (Prothrombin) G20210A Genotyping and MTHFR C677T and A1298C Genotyping PathGroup United States	5	2	T Targeted variant analysis
Factor II (Prothrombin) G20210A Genotyping and SERPINE1 (PAI-1) 4G/5G Genotyping PathGroup United States	4	2	T Targeted variant analysis
Thrombosis Disorder NGS Panel Fulgent Genetics United States	46	18	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
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	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.