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Results: 1 to 5 of 5

Tests names and labsConditionsGenes, analytes, and microbesMethods

NEK9 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposis, Perthes disease, and upward gaze palsy, 614262, Autosomal recessive; APUG (NEK9-related lethal skeletal dysplasia) (NEK9 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

Arthrogryposis, Perthes disease, and upward gaze palsy, 614262, Autosomal recessive; APUG (NEK9-related lethal skeletal dysplasia) (NEK9 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Contractures NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8157
  • C Sequence analysis of the entire coding region

Results: 1 to 5 of 5

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