Clinical and research tests for C3179239 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Hypopigmentation Panel Invitae United States	83	46	D Deletion/duplication analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Bone Fragility and Fracture Panel PreventionGenetics, part of Exact Sciences United States	87	74	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis, autosomal dominant 2, 166600, Autosomal dominant; OPTA2 (Albers-Schönberg osteopetrosis) (CLCN7 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
Osteopetrosis, autosomal dominant 2, 166600, Autosomal dominant; OPTA2 (Albers-Schönberg osteopetrosis) (CLCN7 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
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 NGS Test HNL Genomics Connective Tissue Gene Tests United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteopetrosis, autosomal dominant 2 & autosomal recessive 4 Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	14	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis and Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	14	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis and Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	14	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteopetrosis core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteopetrosis core NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Lysosomal Storage Disorders Panel Invitae United States	87	57	D Deletion/duplication analysis

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