Clinical and research tests for C0024623 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
OnkoRisk Hereditary Oncology Plus Panel BioReference Laboratories United States	97	77	C Sequence analysis of the entire coding region
OnkoRisk Hereditary Oncology Management Panel BioReference Laboratories United States	47	17	C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Adenomatous Polyposis Panel Invitae United States	7	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
Myeloid Tumor Panel Centogene AG - the Rare Disease Company Germany	74	34	C Sequence analysis of the entire coding region
APC - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CASP10 - 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
FGFR2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
IL1RN - 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
PIK3CA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	14	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MUTYH - 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
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Diaphragmatic Hernia Panel PreventionGenetics United States	116	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Diarrhea and Enteropathies Panel PreventionGenetics United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Invitae United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Invitae United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary pediatric cancer panel. NGS panel of 71 genes. Genologica Medica Spain	158	71	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.