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Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

Primordial Dwarfism Panel

Genetic Services Laboratory University of Chicago
United States
1832
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813, Autosomal recessive; SOFT (Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome) (POC1A 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

Primordial Dwarfism via the POC1A 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

POC1A

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

3M syndrome / primordial dwarfism panel. NGS panel of 24 genes.

Genologica Medica
Spain
3324
  • C Sequence analysis of the entire coding region

3-M Syndrome / Primordial Dwarfism Panel

Blueprint Genetics
Finland
824
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

POC1A Single Gene

Fulgent Genetics
United States
371
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 8 of 8

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