Clinical and research tests for C0024507 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 46

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Differences of Sex Development (DSD) Panel PreventionGenetics, part of Exact Sciences United States	149	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics, part of Exact Sciences United States	223	238	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qGenEx Sex development disorders Quantitative Genomic Medicine Laboratories, SL Spain	45	48	C Sequence analysis of the entire coding region
Short Rib Skeletal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States	24	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
NEK1 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Ciliopathy panel. NGS panel of 99 genes. Genologica Medica Spain	152	97	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
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel. 16-gene NGS panel. Genologica Medica Spain	24	16	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
Ciliopathies Asper Biogene Asper Biogene LLC Estonia	166	120	C Sequence analysis of the entire coding region
Short-rib thoracic dysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	19	20	C Sequence analysis of the entire coding region
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel Fulgent Genetics United States	188	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Perinatal Lethal Skeletal Dysplasia and Skeletal Ciliopathies Panel Invitae United States	22	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Ciliopathies Asper Biogene Asper Biogene LLC Estonia	28	23	C Sequence analysis of the entire coding region
Abnormal/Ambiguous Genitalia Panel Genetic Services Laboratory University of Chicago United States	81	92	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
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	48	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	48	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NEK1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 46

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.