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Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

PNLIP - NGS including CNV analysis

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

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Pancreatic lipase deficiency, 614338, Autosomal recessive; PNLIPD (Combined pancreatic lipase-colipase deficiency) (PNLIP gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
552424
  • D Deletion/duplication analysis

Pancreatic lipase deficiency (sequence analysis of PNLIP gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Pancreatic lipase deficiency: Full gene sequencing

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

Congenital Diarrhea panel

Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
2020
  • C Sequence analysis of the entire coding region

Congenital Diarrhea Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
3632
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pancreatic lipase deficiency

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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