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Results: 1 to 5 of 5

Tests names and labsConditionsGenes, analytes, and microbesMethods

PCNA - NGS including CNV analysis

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

Ataxia-telangiectasia-like disorder, 615919, Autosomal recessive; ATLD2 (PCNA-related progressive neurodegenerative photosensitivy syndrome) (PCNA 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

Ataxia-telangiectasia-like disorder, 615919, Autosomal recessive; ATLD2 (PCNA-related progressive neurodegenerative photosensitivy syndrome) (PCNA 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

Ataxia-telangiectasia-like disorder: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Bone marrow failure syndromes Panel

CeGaT GmbH
Germany
1537
  • C Sequence analysis of the entire coding region

Results: 1 to 5 of 5

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