Clinical and research tests for C3150874 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cystic Kidney Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	16	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WDR35 - 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
VACTERL Association and Related Disorders Panel PreventionGenetics United States	123	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Non-Immune Hydrops Fetalis Panel PreventionGenetics United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Polydactyly Panel PreventionGenetics United States	231	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft Lip/Cleft Palate Panel PreventionGenetics United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia ciliopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cranioectodermal Dysplasia 2 (CED2) / Short-Rib Polydactyly Syndromes Type 5 (SRP5) via the WDR35 Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	24	D Deletion/duplication analysis 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
Craniosynostosis NGS Panel Fulgent Genetics United States	339	61	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
Craniofacial Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	47	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	26	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WDR35 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis 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.