Clinical and research tests for FAM111B - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuromuscular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FAM111B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704, Autosomal dominant; POIKTMP (Hereditary sclerosing poikiloderma with tendon and pulmonary involvement) (FAM111B gene) (Sequence Analysis-All Coding Exo Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via the FAM111B Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	180	C Sequence analysis of the entire coding region
Lung Disorders Panel CGC Genetics Unilabs Portugal	1	107	C Sequence analysis of the entire coding region
Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	240	C Sequence analysis of the entire coding region
Neuromuscular Diseases Panel (Expanded) Mendelics Brazil	1	288	C Sequence analysis of the entire coding region
HEREDITARY CANCER EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	249	E Sequence analysis of select exons
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	416	E Sequence analysis of select exons
ARTHROGRIPOSIS PANEL Laboratorio de Genetica Clinica SL Spain	1	245	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
Congenital Myopathies (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	8	55	C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	36	40	C Sequence analysis of the entire coding region
Comprehensive Pulmonary NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	123	124	C Sequence analysis of the entire coding region
FAM111B Single Gene Fulgent Genetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.