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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

EXOSC8 - 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

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Pontocerebellar hypoplasia, type 1C, 616081, Autosomal recessive; PCH1C (Pontocerebellar hypoplasia type 1) (EXOSC8 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

Pontocerebellar hypoplasia, type 1C, 616081, Autosomal recessive; PCH1C (Pontocerebellar hypoplasia type 1) (EXOSC8 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

Pontocerebellar hypoplasia, type 1C (sequence analysis of EXOSC8 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Predominantly distal muscular atrophy

Genologica Medica
Spain
4318
  • C Sequence analysis of the entire coding region

Spinal muscular atrophy panel. 30-gene NGS panel.

Genologica Medica
Spain
6530
  • C Sequence analysis of the entire coding region

Pontocerebellar hypoplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
2018
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
318252
  • C Sequence analysis of the entire coding region

Results: 1 to 11 of 11

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