Clinical and research tests for C1840402 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CDC73 - 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
Invitae Multi-Cancer + RNA Panel Invitae United States	143	63	D Deletion/duplication analysis
Hyperparathyroidism, familial primary, 145000, Autosomal dominant (Familial isolated hyperparathyroidism) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hyperparathyroidism, familial primary, 145000, Autosomal dominant (Familial isolated hyperparathyroidism) (CDC73 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
Wilms Tumor Panel PreventionGenetics, part of Exact Sciences United States	48	28	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
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Cancer Panel PreventionGenetics, part of Exact Sciences United States	122	117	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CDC73-Related Disorders via the CDC73 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Cancer Panel Dhiti Omics Technologies Private Ltd India	136	84	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
Hyperparathyroidism panel. NGS panel of 13 genes. Genologica Medica Spain	21	13	C Sequence analysis of the entire coding region
Hereditary endocrine cancer panel. NGS panel of 22 genes. Genologica Medica Spain	68	22	C Sequence analysis of the entire coding region
Multiple endocrine neoplasia. Panel NGS genes: AIP, CDC73, CDKN1B, MEN1, RET. Genologica Medica Spain	13	5	C Sequence analysis of the entire coding region
Hereditary kidney cancer panel. NGS panel of 26 genes. Genologica Medica Spain	74	26	C Sequence analysis of the entire coding region
Renal cancer Asper Biogene Asper Biogene LLC Estonia	48	25	C Sequence analysis of the entire coding region
CDC73 Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
OncoGeneDx Custom Panel GeneDx United States	103	82	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.