Clinical and research tests for 4507 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MTAP Gene Diaphyseal medullary stenosis with malignant fibrous histiocytoma NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
MTAP Gene Myopathy, limb girdle with bone fragility NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Tempus xT Tempus Labs, Inc. United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	123	129	E Sequence analysis of select exons
MTAP - 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
Abnormal Mineralization Panel Centogene AG - the Rare Disease Company Germany	95	95	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Endeavor PathGroup United States	73	505	C Sequence analysis of the entire coding region
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
Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250, Autosomal dominant; DMSMFH (Diaphyseal medullary stenosis-bone malignancy syndrome) (MTAP 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 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
MTAP Institute for Human Genetics University Medical Center Freiburg Germany	1	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
Diaphyseal medullary stenosis with malignant fibrous histiocytoma (sequence analysis of MTAP gene) CGC Genetics Unilabs Portugal	1	1	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.