Clinical and research tests for C1865639 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

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
Pulmonary Panel Centogene AG - the Rare Disease Company Germany	99	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Gracile bone dysplasia, 602361, Autosomal dominant; GCLEB (Osteocraniostenosis) (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
Gracile bone dysplasia, 602361, Autosomal dominant; GCLEB (Osteocraniostenosis) (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
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
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
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
Hypomagnesemia NGS Panel Fulgent Genetics United States	121	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypoparathyroidism panel Genetic Services Laboratory University of Chicago United States	21	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FAM111A Single Gene Fulgent Genetics United States	90	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Potentially lethal skeletal disorders Panel CeGaT GmbH Germany	45	44	C Sequence analysis of the entire coding region
Skeletal Dysplasia Asper Biogene Asper Biogene LLC Estonia	166	74	C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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