Clinical and research tests for 727857 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
BHLHA9 Gene Syndactyly, mesoaxial synostotic, with phalangeal reduction NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
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
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
Camptosynpolydactyly, complex, 607539, Autosomal recessive; CCSPD (BHLHA9 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
Camptosynpolydactyly, complex, 607539, Autosomal recessive; CCSPD (BHLHA9 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, mesoaxial synostotic, with phalangeal reduction, 609432, Autosomal recessive; MSSD (Mesoaxial synostotic syndactyly with phalangeal reduction) (BHLHA9 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
Mesoaxial Synostotic Syndactyly with Phalangeal Reduction (MSSD) via the BHLHA9 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	141	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
Mesoaxial synostotic syndactyly with phalangeal reduction (sequence analysis of BHLHA9 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
BRACHYDACTYLY & SYNDACTYLY PANEL Laboratorio de Genetica Clinica SL Spain	1	27	E Sequence analysis of select exons
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
Limb malformation panel. NGS panel of 45 genes. Genologica Medica Spain	77	45	C Sequence analysis of the entire coding region
Camptosynpolydactyly, complex: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
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

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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.