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Results: 1 to 9 of 9

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

Lipodystrophies and progeroid syndromes (WES based NGS panel of 25 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
125
  • C Sequence analysis of the entire coding region

Progeroid syndromes (NGS panel for 12 genes)

CGC Genetics Unilabs
Portugal
112
  • C Sequence analysis of the entire coding region

Hereditary Cancer Panel (Complete)

Mendelics
Brazil
1264
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

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 9 of 9

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