Clinical and research tests for 7473 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
WNT3 Gene Tetraamelia, autosomal recessive NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tetra-amelia syndrome, 273395, Autosomal recessive; TETAMS (Tetraamelia-multiple malformations syndrome) (WNT3 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
Tetra-amelia syndrome, 273395, Autosomal recessive; TETAMS (Tetraamelia-multiple malformations syndrome) (WNT3 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
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
Skeletal Disorders Panel Baylor Genetics United States	1	354	C Sequence analysis of the entire coding region
WNT3 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Clefting (WES based NGS panel of 231 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	231	C Sequence analysis of the entire coding region
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	C Sequence analysis of the entire coding region
Tetra-amelia AR (sequence analysis of WNT3 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Skeletal Diseases Panel Mendelics Brazil	1	333	C Sequence analysis of the entire coding region
GLOBAL CILIOPATHIES EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	273	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Limb Abnormalities and Reduction Defects Panel GeneDx United States	24	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States	1	1722	C Sequence analysis of the entire coding region
Tetra-Amelia Syndrome (WNT3 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Tetra-Amelia Syndrome: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
CAKUT Hildebrandt Laboratory Boston Children's Hospital United States	2	204	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.