Clinical and research tests for C1856728 - 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
WNT7A - 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
Fuhrmann syndrome, 228930, Autosomal recessive (Fuhrmann syndrome) (WNT7A 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
Fuhrmann syndrome, 228930, Autosomal recessive (Fuhrmann syndrome) (WNT7A 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
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ambiguous Genitalia Panel PreventionGenetics, part of Exact Sciences United States	128	85	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
WNT7A Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Limb malformation panel. NGS panel of 45 genes. Genologica Medica Spain	77	45	C Sequence analysis of the entire coding region
Brachydactyly , Panel Massive Sequencing (NGS) 18 Genes Reference Laboratory Genetics Spain	22	18	C Sequence analysis of the entire coding region
FUHRMANN SYNDROME Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Furhmann Syndrome, Sequencing WNT7A Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel CeGaT GmbH Germany	19	20	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
WNT7A Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasias NGS Panel Fulgent Genetics United States	543	178	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
Fuhrmann syndrome MedGene Slovakia	1	1	C Sequence analysis of the entire coding region
Fuhrmann syndrome Praxis fuer Humangenetik Wien Austria	1	1	C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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