Clinical and research tests for 608922 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Joubert syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	39	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Joubert syndrome 8, 612291, Autosomal recessive; JBTS8 (Joubert syndrome) (ARL13B 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
Joubert syndrome 8, 612291, Autosomal recessive; JBTS8 (Joubert syndrome) (ARL13B gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region
Joubert Syndrome Amplexa Genetics Amplexa Genetics A/S Denmark	1	28	S Mutation scanning of the entire coding region
Joubert syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	37	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Joubert syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	37	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Joubert syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	37	37	C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Joubert Syndrome via the ARL13B Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ciliopathy Panel PreventionGenetics, part of Exact Sciences United States	135	133	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Joubert and Meckel-Gruber Syndromes Panel PreventionGenetics, part of Exact Sciences United States	43	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneAware™ Expanded Panel (Female) Baylor Genetics United States	1	422	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneAware™ Expanded Panel (Male) Baylor Genetics United States	1	382	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GeneAware™ Expanded Plus Panel (Female) Baylor Genetics United States	1	446	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.