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Results: 1 to 5 of 5

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ruijs-Aalfs syndrome, 616200, Autosomal recessive; RJALS (Progeroid features-hepatocellular carcinoma predisposition syndrome) (SPRTN 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

Ruijs-Aalfs syndrome, 616200, Autosomal recessive; RJALS (Progeroid features-hepatocellular carcinoma predisposition syndrome) (SPRTN 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

Generalized, Partial and Atypical Lipodystrophy Panel

PreventionGenetics, part of Exact Sciences
United States
5729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lipodystrophy - panel diagnostics

Institute of Human Genetics Cologne University
Germany
2021
  • C Sequence analysis of the entire coding region

SPRTN Single Gene

Fulgent Genetics
United States
191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 5 of 5

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