Clinical and research tests for C0265260 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GDF5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	8	1	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
Invitae Limb and Digital Malformations Panel Invitae United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics, part of Exact Sciences United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Chondrodysplasia, Grebe type, 200700, Autosomal recessive (Acromesomelic dysplasia, Grebe type) (GDF5 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
Chondrodysplasia, Grebe type, 200700, Autosomal recessive (Acromesomelic dysplasia, Grebe type) (GDF5 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
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GDF5-related Disorders via the GDF5 Gene PreventionGenetics, part of Exact Sciences United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Limb malformation panel. NGS panel of 45 genes. Genologica Medica Spain	77	45	C Sequence analysis of the entire coding region
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain	113	37	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain	83	27	C Sequence analysis of the entire coding region
Brachydactyly / syndactyly panel. NGS panel of 20 genes. Genologica Medica Spain	55	20	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Chondrodysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Micromelic Dysplasia Panel Blueprint Genetics Finland	6	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Potentially lethal skeletal disorders Panel CeGaT GmbH Germany	45	44	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.