Clinical and research tests for C4316787 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
FAM111A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypoparathyroidism Panel Invitae United States	41	18	D Deletion/duplication analysis
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Kenny-Caffey syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kenny-Caffey syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Kenny-Caffey syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Kenny-Caffey syndrome, type 2, 127000, Autosomal dominant; KCS2 (Kenny-Caffey syndrome) (FAM111A 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
Kenny-Caffey syndrome, type 2, 127000, Autosomal dominant; KCS2 (Kenny-Caffey syndrome) (FAM111A 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
Kenny-Caffey syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Kenny-Caffey syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kenny-Caffey syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Treatable Neurometabolic Disorders Panel Invitae United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kenny-Caffey Syndrome Type 2 via the FAM111A Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypomagnesemia Panel PreventionGenetics, part of Exact Sciences United States	16	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoparathyroidism Panel PreventionGenetics, part of Exact Sciences United States	15	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Kenny-Caffey Syndrome Panel PreventionGenetics, part of Exact Sciences United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Kenny-Caffey syndrome, type 2 (KCS2, sequence analysis of FAM111A gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Hypomagnesemia panel. NGS panel of 19 genes. Genologica Medica Spain	27	19	C Sequence analysis of the entire coding region
Hypomagnesemia Asper Biogene Asper Biogene LLC Estonia	27	18	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.