Clinical and research tests for C0403553 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Senior Loken Syndrome Amplexa Genetics Amplexa Genetics A/S Denmark	1	12	S Mutation scanning of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Nephronophthisis and Joubert Syndrome via the NPHP1 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
Senior-Loken Syndrome Asper Biogene Asper Biogene LLC Estonia	19	9	C Sequence analysis of the entire coding region
Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia	367	291	C Sequence analysis of the entire coding region
Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	22	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CEP290 single gene sequencing Molecular Vision Laboratory United States	2	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Senior-Loken Syndrome Panel Blueprint Genetics Finland	1	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ciliopathy Panel Blueprint Genetics Finland	6	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Senior-Loken Syndrome panel Molecular Vision Laboratory United States	10	4	C Sequence analysis of the entire coding region
Joubert Syndrome Panel Molecular Vision Laboratory United States	48	24	C Sequence analysis of the entire coding region
Ciliopathies Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	44	93	C Sequence analysis of the entire coding region
Cystic Disease and Nephronopthisis panel Clinical Genomics Laboratory Washington University in St. Louis United States	16	33	C Sequence analysis of the entire coding region
Hereditary Tubulopathy and Nephrolithiasis Panel Genetic Services Laboratory University of Chicago United States	12	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Heart Defects and Heterotaxy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	128	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic causes of nephronophthisis and related ciliopathies Hildebrandt Laboratory Boston Children's Hospital United States	7	93	C Sequence analysis of the entire coding region
Bardet-Biedl syndrome panel Molecular Vision Laboratory United States	38	23	C Sequence analysis of the entire coding region
Retinal Dystrophy Panel Molecular Vision Laboratory United States	372	283	C Sequence analysis of the entire coding region
Senior-Loken Syndrome Panel CeGaT GmbH Germany	14	12	C Sequence analysis of the entire coding region
Senior Loken Syndrome Panel CeGaT GmbH Germany	11	12	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.