Clinical and research tests for 79140 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Infertility Panel Centogene AG - the Rare Disease Company Germany	243	238	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CCDC28B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bardet-Biedl syndrome 1, modifier of, 209900, Autosomal recessive, Digenic recessive; BBS1 (Bardet-Biedl syndrome) (CCDC28B 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
Bardet-Biedl syndrome 1, modifier of, 209900, Autosomal recessive, Digenic recessive; BBS1 (Bardet-Biedl syndrome) (CCDC28B 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
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
Bardet-Biedl Syndrome Amplexa Genetics Amplexa Genetics A/S Denmark	1	25	S Mutation scanning of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Bardet-Biedl syndrome (WES based NGS panel of 21 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	21	C Sequence analysis of the entire coding region
Idiopathic renal failure on young (NGS panel of 173 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	173	C Sequence analysis of the entire coding region
Polycystic kidney disease and related diseases (NGS panel of 72 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	72	C Sequence analysis of the entire coding region
Nephrology Panel CGC Genetics Unilabs Portugal	1	334	C Sequence analysis of the entire coding region
Congenital Heart Defects Panel CGC Genetics Unilabs Portugal	1	208	C Sequence analysis of the entire coding region
Ciliopathies Panel CGC Genetics Unilabs Portugal	1	178	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.