Clinical and research tests for C1864445 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLC29A3 - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Abnormal Mineralization Panel Centogene AG - the Rare Disease Company Germany	95	95	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoHear Panel Centogene AG - the Rare Disease Company Germany	203	194	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic Diabetes Panel PreventionGenetics United States	101	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Histiocytosis-lymphadenopathy plus syndrome, 602782, Autosomal recessive (H syndrome) (SLC29A3 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
Histiocytosis-lymphadenopathy plus syndrome, 602782, Autosomal recessive (H syndrome) (SLC29A3 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
Histiocytosis-Lymphadenopathy Plus Syndrome via the SLC29A3 Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteoporosis and bone dysplasia panel. 25-gene NGS panel. Genologica Medica Spain	56	25	C Sequence analysis of the entire coding region
Auto-inflammatory disease panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	34	34	C Sequence analysis of the entire coding region
SLC29A3 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Histiocytosis-Lymphadenopathy Plus Syndrome (SLC29A3 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Periodic Fever/Autoinflammatory Disorders NGS Panel Fulgent Genetics United States	68	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Histiocytosis-Lymphadenopathy Plus Syndrome , Sequencing SLC29A3 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Autoinflammatory diseases Panel CeGaT GmbH Germany	16	20	C Sequence analysis of the entire coding region
Histiocytosis-lymphadenopathy plus syndrome Bioarray Spain	1	1	C Sequence analysis of the entire coding region
SLC29A3 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis 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

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