Clinical and research tests for SLCO2A1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SLCO2A1 Gene Hypertrophic osteoarthropathy type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
SLCO2A1 - 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
Abnormal Mineralization Panel Centogene AG - the Rare Disease Company Germany	95	95	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
Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	14	C Sequence analysis of the entire coding region T Targeted variant analysis
Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441, Autosomal recessive; PHOAR2 (Pachydermoperiostosis) (SLCO2A1 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
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	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 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 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
Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	4	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	4	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	4	14	C Sequence analysis of the entire coding region T Targeted variant analysis
SLCO2A1 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	C Sequence analysis of the entire coding region
Hypertrophic osteoarthropathy, primary 2 AR (sequence analysis of SLCO2A1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
OSTEOPETROSIS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	30	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons

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