Clinical and research tests for 6885 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Tempus xT Tempus AI - RTP United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Tempus xT Tempus AI - CHI United States	2	647	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
FoundationOne® Heme Foundation Medicine, Inc. United States	2	405	D Deletion/duplication analysis R RNA analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
MAP3K7 - 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
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Frontometaphyseal dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontometaphyseal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Frontometaphyseal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Frontometaphyseal dysplasia 2, 617137, Autosomal dominant; FMD2 (Frontometaphyseal dysplasia) (MAP3K7 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
Frontometaphyseal dysplasia 2, 617137, Autosomal dominant; FMD2 (Frontometaphyseal dysplasia) (MAP3K7 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Frontometaphyseal dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Frontometaphyseal dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Frontometaphyseal dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal Disorders Panel Baylor Genetics United States	1	354	C Sequence analysis of the entire coding region
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	231	C Sequence analysis of the entire coding region
Cardiovascular panel _v.2.0 CGC Genetics Unilabs Portugal	1	264	C Sequence analysis of the entire coding region
Cardiomyopathy panel_v.2.0 CGC Genetics Unilabs Portugal	1	203	C Sequence analysis of the entire coding region
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	C Sequence analysis of the entire coding region
Skeletal Diseases Panel Mendelics Brazil	1	333	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.