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Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

POGLUT1 - NGS including CNV analysis

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

Invitae Supplemental Metabolic Newborn Screening Panel

Invitae
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dowling-Degos disease 4, 615696, Autosomal dominant; DDD4 (Dowling-Degos disease) (POGLUT1 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

Dowling-Degos disease 4, 615696, Autosomal dominant; DDD4 (Dowling-Degos disease) (POGLUT1 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

Invitae Comprehensive Muscular Dystrophy Panel

Invitae
United States
11452
  • D Deletion/duplication analysis

Invitae Congenital Disorders of Glycosylation Panel

Invitae
United States
203152
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Limb-Girdle Muscular Dystrophy Panel

Invitae
United States
9137
  • 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

Reticulate pigment disorders: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
55
  • C Sequence analysis of the entire coding region

Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
66
  • C Sequence analysis of the entire coding region

Dowling-Degos Disease Type 4 , Sequencing POGLUT1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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