Clinical and research tests for C1842577 - Genetic Testing Registry (GTR)

Page 4 of 5

Results: 61 to 80 of 91

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Super Panel 113 NxGen MDx United States	113	115	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Ciliopathies Asper Biogene Asper Biogene LLC Estonia	166	120	C Sequence analysis of the entire coding region
Brain Malformations Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	111	56	C Sequence analysis of the entire coding region
Ashkenazi Jewish Diseases Asper Biogene Asper Biogene LLC Estonia	43	37	C Sequence analysis of the entire coding region T Targeted variant analysis
Foresight Myriad Genetics, Inc. United States	112	110	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Joubert syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	38	34	C Sequence analysis of the entire coding region
Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes Reference Laboratory Genetics Spain	13	13	C Sequence analysis of the entire coding region
JOUBERT SYNDROME (JBTS) Laboratorio de Genetica Clinica SL Spain	11	13	C Sequence analysis of the entire coding region
Joubert Syndrome Type 2, Sequencing TMEM216 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
GeneAware Ashkenazi Jewish Panel Version 2 (Male) Baylor Genetics United States	44	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneAware Ashkenazi Jewish Panel Version 2 (Female) Baylor Genetics United States	47	39	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneAware Complete Panel Version 2 (Male) Baylor Genetics United States	164	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneAware Complete Panel Version 2 (Female) Baylor Genetics United States	175	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Joubert Syndrome Asper Biogene Asper Biogene LLC Estonia	37	29	C Sequence analysis of the entire coding region
Joubert Syndrome Type 2 (TMEM216), 1 Variant ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	1	1	T Targeted variant analysis
Comprehensive Brain Malformation Panel Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	36	106	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
Liver Diseases Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	71	72	C Sequence analysis of the entire coding region T Targeted variant analysis
Joubert syndrome type 2 Bioarray Spain	1	1	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

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Results: 61 to 80 of 91

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.

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Results: 61 to 80 of 91

Results: 61 to 80 of 91