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Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

PRMT7 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Diabetes and Obesity Panel

Centogene AG - the Rare Disease Company
Germany
247262
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Monogenic Obesity Panel

Invitae
United States
9268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Limb and Digital Malformations Panel

Invitae
United States
356177
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157, Autosomal recessive; SBIDDS (Short stature-brachydactyly-obesity-global developmental delay syndrome) (PRMT7 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

Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157, Autosomal recessive; SBIDDS (Short stature-brachydactyly-obesity-global developmental delay syndrome) (PRMT7 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

Monogenic Obesity Panel

Genetic Services Laboratory University of Chicago
United States
1750
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Monogenic Obesity panel

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
3840
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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