Clinical and research tests for 603811 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NOTCH2. Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain	1	1	E Sequence analysis of select exons
Nestor-Guillermo progeria syndrome, 614008, Autosomal recessive; NGPS (Nestor-Guillermo progeria syndrome) (BANF1 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
Nestor-Guillermo progeria syndrome, 614008, Autosomal recessive; NGPS (Nestor-Guillermo progeria syndrome) (BANF1 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
Generalized, Partial and Atypical Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States	57	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Progeroid syndromes and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progeroid syndromes and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Progeroid syndromes and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	21	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Lipodystrophies and progeroid syndromes (WES based NGS panel of 25 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	25	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	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
Progeroid syndromes (NGS panel for 12 genes) CGC Genetics Unilabs Portugal	1	12	C Sequence analysis of the entire coding region
Clinically Recognized Syndromes Panel Mendelics Brazil	1	236	C Sequence analysis of the entire coding region
SKELETAL DYSPLASIAS PANEL Laboratorio de Genetica Clinica SL Spain	1	643	E Sequence analysis of select exons
FAMILIAL AND CONGENITAL LIPODYSTROPHY SYNDROME PANEL Laboratorio de Genetica Clinica SL Spain	1	23	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
Progeria: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	3	C Sequence analysis of the entire coding region
Progeria syndromes Panel CeGaT GmbH Germany	20	18	C Sequence analysis of the entire coding region
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel CeGaT GmbH Germany	29	55	C Sequence analysis of the entire coding region
BANF1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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