Clinical and research tests for C0206711 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
CTNNB1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
CancerNext® 37 Ambry Genetics United States	79	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Variant Resolution Test for CancerNext® 37 (+RNAinsight®) Ambry Genetics United States	79	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for Penn Cancer Grant Panel (+RNAinsight®) Ambry Genetics United States	79	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Penn Cancer Grant Panel Ambry Genetics United States	79	80	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600, Somatic mutation (Pilomatrixoma) (MUTYH 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
Pilomatricoma, somatic, 132600 (Pilomatrixoma) (CTNNB1 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
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Variant Resolution Test for CustomNext-Cancer® (+RNAinsight®) Ambry Genetics United States	146	18	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
Variant Resolution Test for ColoNext® (+RNAinsight®) Ambry Genetics United States	48	10	D Deletion/duplication analysis R RNA analysis C Sequence analysis of the entire coding region
MUTYH gene sequence and deletion/duplication Ambry Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
APC and MUTYH gene sequence and deletion/duplication Ambry Genetics United States	7	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cancer® Ambry Genetics United States	146	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ColoNext® Ambry Genetics United States	48	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CancerNext® Ambry Genetics United States	80	34	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.