Clinical and research tests for C1857344 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	288	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DLX5 - 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 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
Split-hand/foot malformation 1 with sensorineural hearing loss, 220600, Autosomal recessive; SHFM1D (Split hand-split foot-deafness syndrome) (DLX5 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
Split-hand/foot malformation 1 with sensorineural hearing loss, 220600, Autosomal recessive; SHFM1D (Split hand-split foot-deafness syndrome) (DLX5 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
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
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States	103	99	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
Split-hand/foot malformation: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	3	C Sequence analysis of the entire coding region
Syndromic Hearing Loss NGS Panel Fulgent Genetics United States	223	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Limb Malformations Panel Blueprint Genetics Finland	4	45	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hearing Loss Advanced Sequencing and CNV Evaluation Athena Diagnostics United States	249	184	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SPLIT HAND-SPLIT FOOT-DEAFNESS Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
SPLIT HAND-SPLIT FOOT MALFORMATION Laboratorio de Genetica Clinica SL Spain	4	4	C Sequence analysis of the entire coding region
DLX5 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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