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Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
287218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AMMECR1 - 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

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990, X-linked recessive; MFHIEN (Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome) (AMMECR1 gene) (Sequence Analysis-All Coding Exons) (Post

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

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990, X-linked recessive; MFHIEN (Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome) (AMMECR1 gene) (Sequence Analysis-All Coding Exons) (Pren

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

X-Linked Intellectual Disability Panel

PreventionGenetics, part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 8 of 8

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