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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

SMCHD1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bosma arhinia microphthalmia syndrome, 603457, Autosomal dominant; BAMS (Arrhinia-choanal atresia-microphthalmia syndrome) (SMCHD1 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

Bosma arhinia microphthalmia syndrome, 603457, Autosomal dominant; BAMS (Arrhinia-choanal atresia-microphthalmia syndrome) (SMCHD1 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

Anterior Segment Dysgenesis Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
272278
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Muscular Dystrophy Panel

Invitae
United States
11452
  • D Deletion/duplication analysis

Invitae Limb-Girdle Muscular Dystrophy Panel

Invitae
United States
9137
  • D Deletion/duplication analysis

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Invitae
United States
13081
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Congenital muscular dystrophy and LGMD panel. 42-gene NGS panel.

Genologica Medica
Spain
9642
  • C Sequence analysis of the entire coding region

Girdle muscular dystrophy. NGS panel of 39 genes.

Genologica Medica
Spain
8439
  • C Sequence analysis of the entire coding region

Bosma arhinia microphthalmia syndrome: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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