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Results: 1 to 6 of 6

Tests names and labsConditionsGenes, analytes, and microbesMethods

FAM111B - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • 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
11
  • 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
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • 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
3640
  • C Sequence analysis of the entire coding region

Comprehensive Pulmonary NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
123124
  • C Sequence analysis of the entire coding region

Results: 1 to 6 of 6

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