Clinical and research tests for FBLN1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	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
Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180, Autosomal dominant; SPD2 (Synpolydactyly type 2) (FBLN1 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	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 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
Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal	1	606	C Sequence analysis of the entire coding region
Skeletal Diseases Panel Mendelics Brazil	1	333	C Sequence analysis of the entire coding region
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
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
Autism/ID Xpanded Panel GeneDx United States	2	2592	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
SYNDACTYLY TYPE 2 (SINPOLYDACTYLY) Laboratorio de Genetica Clinica SL Spain	1	2	C Sequence analysis of the entire coding region T Targeted variant analysis
Synpolydactyly , Panel Massive Sequencing (NGS) FBLN1, HOXD13 Genes Reference Laboratory Genetics Spain	2	2	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

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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.